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Tunnus
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.
Kokkuvõte
- Teised nimetused
- Decreased length of nose, Shortened nose, Small nose, Hypoplastic nose, Nasal hypoplasia
- Kehasüsteem
- Abnormality of head or neck
Short noseHP:0003196
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Read the genes linked to Short nose, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test337 geeni on seotud tunnusega Short nose
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Short nose. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Alati | Esineb 1 haiguses |
| ANTXR1ANTXR cell adhesion molecule 1 | Alati | Esineb 1 haiguses |
| BMP2bone morphogenetic protein 2 | Alati | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alati | Esineb 2 haiguses |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alati | Esineb 1 haiguses |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Alati | Esineb 1 haiguses |
| CEP57centrosomal protein 57 | Alati | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Alati | Esineb 2 haiguses |
| CILK1ciliogenesis associated kinase 1 | Alati | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Alati | Esineb 3 haiguses |
| COL11A2collagen type XI alpha 2 chain | Alati | Esineb 1 haiguses |
| DCPSdecapping enzyme, scavenger | Alati | Esineb 1 haiguses |
| DNMT3BDNA methyltransferase 3 beta | Alati | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Alati | Esineb 3 haiguses |
| DVL3dishevelled segment polarity protein 3 | Alati | Esineb 2 haiguses |
| ECE1endothelin converting enzyme 1 | Alati | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Alati | Esineb 2 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Alati | Esineb 5 haiguses |
| GTF3C3general transcription factor IIIC subunit 3 | Alati | Esineb 1 haiguses |
| HOXB1homeobox B1 | Alati | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Alati | Esineb 2 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Alati | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Alati | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Alati | Esineb 4 haiguses |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Alati | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Alati | Esineb 2 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alati | Esineb 2 haiguses |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| MIR140microRNA 140 | Alati | Esineb 1 haiguses |
| MN1MN1 proto-oncogene, transcriptional regulator | Alati | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Alati | Esineb 1 haiguses |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Alati | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Alati | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Alati | Esineb 1 haiguses |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Alati | Esineb 1 haiguses |
| PAK3p21 (RAC1) activated kinase 3 | Alati | Esineb 1 haiguses |
| PDE4Dphosphodiesterase 4D | Alati | Esineb 3 haiguses |
Näita veel 297 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PGAP3post-GPI attachment to proteins phospholipase 3 | Alati | Esineb 1 haiguses |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Alati | Esineb 1 haiguses |
| PLCB3phospholipase C beta 3 | Alati | Esineb 1 haiguses |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Alati | Esineb 1 haiguses |
| POLR1ARNA polymerase I subunit A | Alati | Esineb 2 haiguses |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Alati | Esineb 1 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alati | Esineb 1 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alati | Esineb 2 haiguses |
| RAC3Rac family small GTPase 3 | Alati | Esineb 1 haiguses |
| RBSNrabenosyn, RAB effector | Alati | Esineb 1 haiguses |
| RIPK4receptor interacting serine/threonine kinase 4 | Alati | Esineb 2 haiguses |
| ROR2ROR family WNT receptor 2 | Alati | Esineb 2 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Alati | Esineb 1 haiguses |
| RSPRY1ring finger and SPRY domain containing 1 | Alati | Esineb 2 haiguses |
| SLC13A1solute carrier family 13 member 1 | Alati | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Alati | Esineb 2 haiguses |
| SONSON DNA and RNA binding protein | Alati | Esineb 2 haiguses |
| TMCO1transmembrane and coiled-coil domains 1 | Alati | Esineb 2 haiguses |
| TOP2BDNA topoisomerase II beta | Alati | Esineb 1 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Alati | Esineb 3 haiguses |
| VPS53VPS53 subunit of GARP complex | Alati | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Alati | Esineb 2 haiguses |
| ZMPSTE24zinc metallopeptidase STE24 | Alati | Esineb 2 haiguses |
| ZPR1ZPR1 zinc finger | Alati | Esineb 1 haiguses |
| ADSLadenylosuccinate lyase | Väga sageli (80–99%) | Esineb 2 haiguses |
| AGAaspartylglucosaminidase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARSLarylsulfatase L | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRD4bromodomain containing 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| CD96CD96 molecule | Väga sageli (80–99%) | Esineb 2 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| DDX3XDEAD-box helicase 3 X-linked | Väga sageli (80–99%) | Esineb 1 haiguses |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Väga sageli (80–99%) | Esineb 2 haiguses |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| EHMT1euchromatic histone lysine methyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Väga sageli (80–99%) | Esineb 1 haiguses |
| ELNelastin | Väga sageli (80–99%) | Esineb 2 haiguses |
| FBN1fibrillin 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Väga sageli (80–99%) | Esineb 4 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Väga sageli (80–99%) | Esineb 1 haiguses |
| FLNAfilamin A | Väga sageli (80–99%) | Esineb 2 haiguses |
| FZD2frizzled class receptor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GTF2Igeneral transcription factor IIi | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HDAC6histone deacetylase 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HDAC8histone deacetylase 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HIC1HIC ZBTB transcriptional repressor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LIMK1LIM domain kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Väga sageli (80–99%) | Esineb 1 haiguses |
| LRP2LDL receptor related protein 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MAFMAF bZIP transcription factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MYMKmyomaker, myoblast fusion factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| MYMXmyomixer, myoblast fusion factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| NIPBLNIPBL cohesin loading factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| NXNnucleoredoxin | Väga sageli (80–99%) | Esineb 2 haiguses |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PAX3paired box 3 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAB18RAB18, member RAS oncogene family | Väga sageli (80–99%) | Esineb 2 haiguses |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAD21RAD21 cohesin complex component | Väga sageli (80–99%) | Esineb 2 haiguses |
| RFC2replication factor C subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMC3structural maintenance of chromosomes 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| STX1Asyntaxin 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBC1D20TBC1 domain family member 20 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM94transmembrane protein 94 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Väga sageli (80–99%) | Esineb 1 haiguses |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZNHIT3zinc finger HIT-type containing 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ADAMTSL2ADAMTS like 2 | Sageli (30–79%) | Esineb 2 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Sageli (30–79%) | Esineb 1 haiguses |
| AFF4ALF transcription elongation factor 4 | Sageli (30–79%) | Esineb 2 haiguses |
| ARID1AAT-rich interaction domain 1A | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Sageli (30–79%) | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Sageli (30–79%) | Esineb 2 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Sageli (30–79%) | Esineb 1 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Sageli (30–79%) | Esineb 1 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Sageli (30–79%) | Esineb 2 haiguses |
| CAV1caveolin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CCDC22CCC complex scaffolding subunit CCDC22 | Sageli (30–79%) | Esineb 1 haiguses |
| CDH11cadherin 11 | Sageli (30–79%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| DDB1damage specific DNA binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DHCR2424-dehydrocholesterol reductase | Sageli (30–79%) | Esineb 2 haiguses |
| DPF2double PHD fingers 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DPYDdihydropyrimidine dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| DPYSL5dihydropyrimidinase like 5 | Sageli (30–79%) | Esineb 1 haiguses |
| FAM20CFAM20C golgi associated secretory pathway kinase | Sageli (30–79%) | Esineb 2 haiguses |
| FBXO22F-box protein 22 | Sageli (30–79%) | Esineb 1 haiguses |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| FOXG1forkhead box G1 | Sageli (30–79%) | Esineb 1 haiguses |
| FOXP1forkhead box P1 | Sageli (30–79%) | Esineb 2 haiguses |
| FUT8fucosyltransferase 8 | Sageli (30–79%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GLI3GLI family zinc finger 3 | Sageli (30–79%) | Esineb 2 haiguses |
| GLULglutamate-ammonia ligase | Sageli (30–79%) | Esineb 1 haiguses |
| GNAI1G protein subunit alpha i1 | Sageli (30–79%) | Esineb 1 haiguses |
| GPC3glypican 3 | Sageli (30–79%) | Esineb 2 haiguses |
| GPC4glypican 4 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sageli (30–79%) | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KICS2KICSTOR subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Sageli (30–79%) | Esineb 1 haiguses |
| MEF2Cmyocyte enhancer factor 2C | Sageli (30–79%) | Esineb 2 haiguses |
| MLXIPLMLX interacting protein like | Sageli (30–79%) | Esineb 1 haiguses |
| NCAPG2non-SMC condensin II complex subunit G2 | Sageli (30–79%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Sageli (30–79%) | Esineb 3 haiguses |
| PGAP2post-GPI attachment to proteins 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Sageli (30–79%) | Esineb 1 haiguses |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Sageli (30–79%) | Esineb 1 haiguses |
| PLAAphospholipase A2 activating protein | Sageli (30–79%) | Esineb 2 haiguses |
| PRMT7protein arginine methyltransferase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| PTCH1patched 1 | Sageli (30–79%) | Esineb 3 haiguses |
| PUS1pseudouridine synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Sageli (30–79%) | Esineb 2 haiguses |
| RNF13ring finger protein 13 | Sageli (30–79%) | Esineb 2 haiguses |
| SC5Dsterol-C5-desaturase | Sageli (30–79%) | Esineb 2 haiguses |
| SLC12A6solute carrier family 12 member 6 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC35D1solute carrier family 35 member D1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMAD2SMAD family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX11SRY-box transcription factor 11 | Sageli (30–79%) | Esineb 2 haiguses |
| SOX4SRY-box transcription factor 4 | Sageli (30–79%) | Esineb 2 haiguses |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Sageli (30–79%) | Esineb 2 haiguses |
| SPOPspeckle type BTB/POZ protein | Sageli (30–79%) | Esineb 1 haiguses |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| VARS1valyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS35LVPS35 endosomal protein sorting factor like | Sageli (30–79%) | Esineb 1 haiguses |
| WASHC5WASH complex subunit 5 | Sageli (30–79%) | Esineb 1 haiguses |
| YARS2tyrosyl-tRNA synthetase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF462zinc finger protein 462 | Sageli (30–79%) | Esineb 2 haiguses |
| ABCC8ATP binding cassette subfamily C member 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ABCD1ATP binding cassette subfamily D member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADAT3adenosine deaminase tRNA specific 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| APCAPC regulator of Wnt signaling pathway | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATAD3AATPase family AAA domain containing 3A | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATXN7L3ataxin 7 like 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCAP31B cell receptor associated protein 31 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDONcell adhesion associated, oncogene regulated | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHSY1chondroitin sulfate synthase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNTNAP2contactin associated protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG8component of oligomeric golgi complex 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRIPTOcripto, EGF-CFC family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| DISP1dispatched RND transporter family member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLL1delta like canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Mõnikord (5–29%) | Esineb 2 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAR1fatty acyl-CoA reductase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF8fibroblast growth factor 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXH1forkhead box H1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FRYLFRY like transcription coactivator | Mõnikord (5–29%) | Esineb 1 haiguses |
| GAS1growth arrest specific 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLI2GLI family zinc finger 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPC6glypican 6 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Mõnikord (5–29%) | Esineb 2 haiguses |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INTS1integrator complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Alysine methyltransferase 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNB1lamin B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP4LDL receptor related protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MADDMAP kinase activating death domain | Mõnikord (5–29%) | Esineb 2 haiguses |
| MED13Lmediator complex subunit 13L | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPLKIPM-phase specific PLK1 interacting protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NODALnodal growth differentiation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NRCAMneuronal cell adhesion molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Mõnikord (5–29%) | Esineb 2 haiguses |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLA1DNA polymerase alpha 1, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 3 haiguses |
| PURApurine rich element binding protein A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RBMXRNA binding motif protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFX7regulatory factor X7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHHsonic hedgehog signaling molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIX3SIX homeobox 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A10solute carrier family 2 member 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYT1synaptotagmin 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TCTN2tectonic family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGIF1TGFB induced factor homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TONSLtonsoku like, DNA repair protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| TRIP12thyroid hormone receptor interactor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMT10AtRNA methyltransferase 10A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TXNL4Athioredoxin like 4A | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Mõnikord (5–29%) | Esineb 1 haiguses |
| WACWW domain containing adaptor with coiled-coil | Mõnikord (5–29%) | Esineb 1 haiguses |
| WNT7AWnt family member 7A | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZIC2Zic family zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZMYM2zinc finger MYM-type containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF699zinc finger protein 699 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EBF3EBF transcription factor 3 | Harva (1–4%) | Esineb 1 haiguses |
| HEPACAMhepatic and glial cell adhesion molecule | Harva (1–4%) | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Harva (1–4%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Pole registreeritud | Esineb 1 haiguses |
| ACTBactin beta | Pole registreeritud | Esineb 1 haiguses |
| AGO1argonaute RISC component 1 | Pole registreeritud | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Pole registreeritud | Esineb 1 haiguses |
| AVParginine vasopressin | Pole registreeritud | Esineb 1 haiguses |
| BLTP1bridge-like lipid transfer protein family member 1 | Pole registreeritud | Esineb 1 haiguses |
| BMPERBMP binding endothelial regulator | Pole registreeritud | Esineb 1 haiguses |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Pole registreeritud | Esineb 1 haiguses |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Pole registreeritud | Esineb 1 haiguses |
| CANT1calcium activated nucleotidase 1 | Pole registreeritud | Esineb 1 haiguses |
| CDCA7cell division cycle associated 7 | Pole registreeritud | Esineb 1 haiguses |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| COG7component of oligomeric golgi complex 7 | Pole registreeritud | Esineb 1 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| EDAectodysplasin A | Pole registreeritud | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Pole registreeritud | Esineb 1 haiguses |
| FLNBfilamin B | Pole registreeritud | Esineb 2 haiguses |
| GBA1glucosylceramidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| GGCXgamma-glutamyl carboxylase | Pole registreeritud | Esineb 1 haiguses |
| GMNNgeminin DNA replication inhibitor | Pole registreeritud | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| HSPA9heat shock protein family A (Hsp70) member 9 | Pole registreeritud | Esineb 1 haiguses |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Pole registreeritud | Esineb 1 haiguses |
| LIFRLIF receptor subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| MBD5methyl-CpG binding domain protein 5 | Pole registreeritud | Esineb 1 haiguses |
| MOCS1molybdenum cofactor synthesis 1 | Pole registreeritud | Esineb 1 haiguses |
| MOCS2molybdenum cofactor synthesis 2 | Pole registreeritud | Esineb 1 haiguses |
| NFIAnuclear factor I A | Pole registreeritud | Esineb 1 haiguses |
| NPR2natriuretic peptide receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| PAM16presequence translocase associated motor 16 | Pole registreeritud | Esineb 1 haiguses |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| PEPDpeptidase D | Pole registreeritud | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Pole registreeritud | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Pole registreeritud | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Pole registreeritud | Esineb 1 haiguses |
| PLA2G6phospholipase A2 group VI | Pole registreeritud | Esineb 1 haiguses |
| POU1F1POU class 1 homeobox 1 | Pole registreeritud | Esineb 1 haiguses |
| PUF60poly(U) binding splicing factor 60 | Pole registreeritud | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Pole registreeritud | Esineb 1 haiguses |
| RPS7ribosomal protein S7 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A24solute carrier family 25 member 24 | Pole registreeritud | Esineb 1 haiguses |
| SMOsmoothened, frizzled class receptor | Pole registreeritud | Esineb 1 haiguses |
| SMOC1SPARC related modular calcium binding 1 | Pole registreeritud | Esineb 1 haiguses |
| STAMBPSTAM binding protein | Pole registreeritud | Esineb 1 haiguses |
| TAPT1transmembrane anterior posterior transformation 1 | Pole registreeritud | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Pole registreeritud | Esineb 1 haiguses |
| TCF20transcription factor 20 | Pole registreeritud | Esineb 1 haiguses |
| TRRAPtransformation/transcription domain associated protein | Pole registreeritud | Esineb 1 haiguses |
| UBE3Bubiquitin protein ligase E3B | Pole registreeritud | Esineb 1 haiguses |
| ZBTB24zinc finger and BTB domain containing 24 | Pole registreeritud | Esineb 1 haiguses |
| ZSWIM6zinc finger SWIM-type containing 6 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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