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Egenskap
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.
Sammendrag
- Også kalt
- Decreased length of nose, Shortened nose, Small nose, Hypoplastic nose, Nasal hypoplasia
- Kroppssystem
- Abnormality of head or neck
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/short-nose.json"
page <- fromJSON(url)
page$trait$nameShort noseHP:0003196
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Logg innSpørSekvenser genomet ditt↗
Les genene knyttet til Short nose, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test337 gener knyttet til Short nose
Endringer i disse genene forårsaker sjeldne tilstander der Short nose forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Alltid | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Alltid | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Alltid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 2 tilstander |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alltid | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Alltid | I 1 tilstand |
| CEP57centrosomal protein 57 | Alltid | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Alltid | I 2 tilstander |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Alltid | I 3 tilstander |
| COL11A2collagen type XI alpha 2 chain | Alltid | I 1 tilstand |
| DCPSdecapping enzyme, scavenger | Alltid | I 1 tilstand |
| DNMT3BDNA methyltransferase 3 beta | Alltid | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Alltid | I 3 tilstander |
| DVL3dishevelled segment polarity protein 3 | Alltid | I 2 tilstander |
| ECE1endothelin converting enzyme 1 | Alltid | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Alltid | I 2 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Alltid | I 5 tilstander |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| HOXB1homeobox B1 | Alltid | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Alltid | I 2 tilstander |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Alltid | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Alltid | I 4 tilstander |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Alltid | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Alltid | I 2 tilstander |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 2 tilstander |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| MIR140microRNA 140 | Alltid | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Alltid | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Alltid | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Alltid | I 1 tilstand |
| MYH3myosin heavy chain 3 | Alltid | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Alltid | I 1 tilstand |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Alltid | I 1 tilstand |
| PAK3p21 (RAC1) activated kinase 3 | Alltid | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Alltid | I 3 tilstander |
Vis 297 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| PGAP3post-GPI attachment to proteins phospholipase 3 | Alltid | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Alltid | I 1 tilstand |
| PLCB3phospholipase C beta 3 | Alltid | I 1 tilstand |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Alltid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Alltid | I 2 tilstander |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Alltid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alltid | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alltid | I 2 tilstander |
| RAC3Rac family small GTPase 3 | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Alltid | I 2 tilstander |
| ROR2ROR family WNT receptor 2 | Alltid | I 2 tilstander |
| RPS6KA3ribosomal protein S6 kinase A3 | Alltid | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Alltid | I 2 tilstander |
| SLC13A1solute carrier family 13 member 1 | Alltid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Alltid | I 2 tilstander |
| SONSON DNA and RNA binding protein | Alltid | I 2 tilstander |
| TMCO1transmembrane and coiled-coil domains 1 | Alltid | I 2 tilstander |
| TOP2BDNA topoisomerase II beta | Alltid | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Alltid | I 3 tilstander |
| VPS53VPS53 subunit of GARP complex | Alltid | I 1 tilstand |
| WNT5AWnt family member 5A | Alltid | I 2 tilstander |
| ZMPSTE24zinc metallopeptidase STE24 | Alltid | I 2 tilstander |
| ZPR1ZPR1 zinc finger | Alltid | I 1 tilstand |
| ADSLadenylosuccinate lyase | Svært ofte (80–99 %) | I 2 tilstander |
| AGAaspartylglucosaminidase | Svært ofte (80–99 %) | I 1 tilstand |
| ARSLarylsulfatase L | Svært ofte (80–99 %) | I 2 tilstander |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Svært ofte (80–99 %) | I 2 tilstander |
| ATP6V1AATPase H+ transporting V1 subunit A | Svært ofte (80–99 %) | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Svært ofte (80–99 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Svært ofte (80–99 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Svært ofte (80–99 %) | I 2 tilstander |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Svært ofte (80–99 %) | I 1 tilstand |
| CD96CD96 molecule | Svært ofte (80–99 %) | I 2 tilstander |
| CLIP2CAP-Gly domain containing linker protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Svært ofte (80–99 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Svært ofte (80–99 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Svært ofte (80–99 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Svært ofte (80–99 %) | I 2 tilstander |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Svært ofte (80–99 %) | I 2 tilstander |
| EHMT1euchromatic histone lysine methyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Svært ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Svært ofte (80–99 %) | I 2 tilstander |
| FBN1fibrillin 1 | Svært ofte (80–99 %) | I 3 tilstander |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Svært ofte (80–99 %) | I 4 tilstander |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Svært ofte (80–99 %) | I 1 tilstand |
| FLNAfilamin A | Svært ofte (80–99 %) | I 2 tilstander |
| FZD2frizzled class receptor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| GTF2Igeneral transcription factor IIi | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HDAC6histone deacetylase 6 | Svært ofte (80–99 %) | I 2 tilstander |
| HDAC8histone deacetylase 8 | Svært ofte (80–99 %) | I 1 tilstand |
| HIC1HIC ZBTB transcriptional repressor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Svært ofte (80–99 %) | I 1 tilstand |
| LRP2LDL receptor related protein 2 | Svært ofte (80–99 %) | I 2 tilstander |
| LTBP3latent transforming growth factor beta binding protein 3 | Svært ofte (80–99 %) | I 2 tilstander |
| MAFMAF bZIP transcription factor | Svært ofte (80–99 %) | I 2 tilstander |
| MAU2MAU2 sister chromatid cohesion factor | Svært ofte (80–99 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Svært ofte (80–99 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Svært ofte (80–99 %) | I 1 tilstand |
| MYMXmyomixer, myoblast fusion factor | Svært ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Svært ofte (80–99 %) | I 2 tilstander |
| NIPBLNIPBL cohesin loading factor | Svært ofte (80–99 %) | I 2 tilstander |
| NXNnucleoredoxin | Svært ofte (80–99 %) | I 2 tilstander |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PAX3paired box 3 | Svært ofte (80–99 %) | I 3 tilstander |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Svært ofte (80–99 %) | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Svært ofte (80–99 %) | I 2 tilstander |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Svært ofte (80–99 %) | I 2 tilstander |
| RFC2replication factor C subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Svært ofte (80–99 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Svært ofte (80–99 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Svært ofte (80–99 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Svært ofte (80–99 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Svært ofte (80–99 %) | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Svært ofte (80–99 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Svært ofte (80–99 %) | I 2 tilstander |
| ZNHIT3zinc finger HIT-type containing 3 | Svært ofte (80–99 %) | I 2 tilstander |
| ADAMTSL2ADAMTS like 2 | Ofte (30–79 %) | I 2 tilstander |
| ADNPactivity dependent neuroprotector homeobox | Ofte (30–79 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| DDB1damage specific DNA binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| PRMT7protein arginine methyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| RNF13ring finger protein 13 | Ofte (30–79 %) | I 2 tilstander |
| SC5Dsterol-C5-desaturase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 2 tilstander |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| ABCC8ATP binding cassette subfamily C member 8 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| APCAPC regulator of Wnt signaling pathway | Noen ganger (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Noen ganger (5–29 %) | I 2 tilstander |
| ATXN7L3ataxin 7 like 3 | Noen ganger (5–29 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| BCAP31B cell receptor associated protein 31 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Noen ganger (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Noen ganger (5–29 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Noen ganger (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Noen ganger (5–29 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Noen ganger (5–29 %) | I 2 tilstander |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Noen ganger (5–29 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Noen ganger (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Noen ganger (5–29 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Noen ganger (5–29 %) | I 2 tilstander |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GPC6glypican 6 | Noen ganger (5–29 %) | I 2 tilstander |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Noen ganger (5–29 %) | I 2 tilstander |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| INTS1integrator complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Noen ganger (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 2 tilstander |
| MED13Lmediator complex subunit 13L | Noen ganger (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Noen ganger (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Noen ganger (5–29 %) | I 2 tilstander |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Noen ganger (5–29 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Noen ganger (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 3 tilstander |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Noen ganger (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Noen ganger (5–29 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Noen ganger (5–29 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TCTN2tectonic family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Noen ganger (5–29 %) | I 2 tilstander |
| TRIOtrio Rho guanine nucleotide exchange factor | Noen ganger (5–29 %) | I 2 tilstander |
| TRIP12thyroid hormone receptor interactor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Noen ganger (5–29 %) | I 1 tilstand |
| TXNL4Athioredoxin like 4A | Noen ganger (5–29 %) | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Noen ganger (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Noen ganger (5–29 %) | I 1 tilstand |
| WNT7AWnt family member 7A | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Sjelden (1–4%) | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Sjelden (1–4%) | I 1 tilstand |
| MED16mediator complex subunit 16 | Sjelden (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ikke registrert | I 1 tilstand |
| ACTBactin beta | Ikke registrert | I 1 tilstand |
| AGO1argonaute RISC component 1 | Ikke registrert | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registrert | I 1 tilstand |
| AVParginine vasopressin | Ikke registrert | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registrert | I 1 tilstand |
| BMPERBMP binding endothelial regulator | Ikke registrert | I 1 tilstand |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Ikke registrert | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registrert | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registrert | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Ikke registrert | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ikke registrert | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Ikke registrert | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ikke registrert | I 1 tilstand |
| EDAectodysplasin A | Ikke registrert | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Ikke registrert | I 1 tilstand |
| FLNBfilamin B | Ikke registrert | I 2 tilstander |
| GBA1glucosylceramidase beta 1 | Ikke registrert | I 1 tilstand |
| GGCXgamma-glutamyl carboxylase | Ikke registrert | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Ikke registrert | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registrert | I 1 tilstand |
| HSPA9heat shock protein family A (Hsp70) member 9 | Ikke registrert | I 1 tilstand |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Ikke registrert | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Ikke registrert | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registrert | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registrert | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registrert | I 1 tilstand |
| NFIAnuclear factor I A | Ikke registrert | I 1 tilstand |
| NPR2natriuretic peptide receptor 2 | Ikke registrert | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ikke registrert | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registrert | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| PEPDpeptidase D | Ikke registrert | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Ikke registrert | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registrert | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ikke registrert | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registrert | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Ikke registrert | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Ikke registrert | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ikke registrert | I 1 tilstand |
| RPS7ribosomal protein S7 | Ikke registrert | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registrert | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Ikke registrert | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Ikke registrert | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ikke registrert | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registrert | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registrert | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ikke registrert | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Ikke registrert | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.17-8666dff2.
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