Piirre
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.
Yhteenveto
- Tunnetaan myös nimellä
- Decreased length of nose, Shortened nose, Small nose, Hypoplastic nose, Nasal hypoplasia
- Elimistön järjestelmä
- Abnormality of head or neck
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Short nose, and the rest of your genome, with one test.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test337 geeniä, jotka liittyvät piirteeseen Short nose
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Short nose esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Aina | 1 sairaudessa |
| ANTXR1ANTXR cell adhesion molecule 1 | Aina | 1 sairaudessa |
| BMP2bone morphogenetic protein 2 | Aina | 1 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Aina | 2 sairaudessa |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Aina | 1 sairaudessa |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Aina | 1 sairaudessa |
| CEP57centrosomal protein 57 | Aina | 1 sairaudessa |
| CHST14carbohydrate sulfotransferase 14 | Aina | 2 sairaudessa |
| CILK1ciliogenesis associated kinase 1 | Aina | 1 sairaudessa |
| COL11A1collagen type XI alpha 1 chain | Aina | 3 sairaudessa |
| COL11A2collagen type XI alpha 2 chain | Aina | 1 sairaudessa |
| DCPSdecapping enzyme, scavenger | Aina | 1 sairaudessa |
| DNMT3BDNA methyltransferase 3 beta | Aina | 1 sairaudessa |
| DVL1dishevelled segment polarity protein 1 | Aina | 3 sairaudessa |
| DVL3dishevelled segment polarity protein 3 | Aina | 2 sairaudessa |
| ECE1endothelin converting enzyme 1 | Aina | 1 sairaudessa |
| EXTL3exostosin like glycosyltransferase 3 | Aina | 2 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Aina | 5 sairaudessa |
| GTF3C3general transcription factor IIIC subunit 3 | Aina | 1 sairaudessa |
| HOXB1homeobox B1 | Aina | 1 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| INPPL1inositol polyphosphate phosphatase like 1 | Aina | 2 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| KDM6Alysine demethylase 6A | Aina | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Aina | 1 sairaudessa |
| KMT2Dlysine methyltransferase 2D | Aina | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Aina | 4 sairaudessa |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Aina | 1 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Aina | 2 sairaudessa |
| MAP2K2mitogen-activated protein kinase kinase 2 | Aina | 2 sairaudessa |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| MIR140microRNA 140 | Aina | 1 sairaudessa |
| MN1MN1 proto-oncogene, transcriptional regulator | Aina | 1 sairaudessa |
| MTORmechanistic target of rapamycin kinase | Aina | 1 sairaudessa |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Aina | 1 sairaudessa |
| MYH3myosin heavy chain 3 | Aina | 1 sairaudessa |
| NALCNsodium leak channel, non-selective | Aina | 1 sairaudessa |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Aina | 1 sairaudessa |
| PAK3p21 (RAC1) activated kinase 3 | Aina | 1 sairaudessa |
| PDE4Dphosphodiesterase 4D | Aina | 3 sairaudessa |
Näytä 297 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| PGAP3post-GPI attachment to proteins phospholipase 3 | Aina | 1 sairaudessa |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Aina | 1 sairaudessa |
| PLCB3phospholipase C beta 3 | Aina | 1 sairaudessa |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Aina | 1 sairaudessa |
| POLR1ARNA polymerase I subunit A | Aina | 2 sairaudessa |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Aina | 1 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Aina | 1 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Aina | 2 sairaudessa |
| RAC3Rac family small GTPase 3 | Aina | 1 sairaudessa |
| RBSNrabenosyn, RAB effector | Aina | 1 sairaudessa |
| RIPK4receptor interacting serine/threonine kinase 4 | Aina | 2 sairaudessa |
| ROR2ROR family WNT receptor 2 | Aina | 2 sairaudessa |
| RPS6KA3ribosomal protein S6 kinase A3 | Aina | 1 sairaudessa |
| RSPRY1ring finger and SPRY domain containing 1 | Aina | 2 sairaudessa |
| SLC13A1solute carrier family 13 member 1 | Aina | 1 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Aina | 2 sairaudessa |
| SONSON DNA and RNA binding protein | Aina | 2 sairaudessa |
| TMCO1transmembrane and coiled-coil domains 1 | Aina | 2 sairaudessa |
| TOP2BDNA topoisomerase II beta | Aina | 1 sairaudessa |
| TRIP11thyroid hormone receptor interactor 11 | Aina | 3 sairaudessa |
| VPS53VPS53 subunit of GARP complex | Aina | 1 sairaudessa |
| WNT5AWnt family member 5A | Aina | 2 sairaudessa |
| ZMPSTE24zinc metallopeptidase STE24 | Aina | 2 sairaudessa |
| ZPR1ZPR1 zinc finger | Aina | 1 sairaudessa |
| ADSLadenylosuccinate lyase | Hyvin usein (80–99%) | 2 sairaudessa |
| AGAaspartylglucosaminidase | Hyvin usein (80–99%) | 1 sairaudessa |
| ARSLarylsulfatase L | Hyvin usein (80–99%) | 2 sairaudessa |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Hyvin usein (80–99%) | 2 sairaudessa |
| ATP6V1AATPase H+ transporting V1 subunit A | Hyvin usein (80–99%) | 1 sairaudessa |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Hyvin usein (80–99%) | 1 sairaudessa |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Hyvin usein (80–99%) | 1 sairaudessa |
| BRD4bromodomain containing 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Hyvin usein (80–99%) | 1 sairaudessa |
| CD96CD96 molecule | Hyvin usein (80–99%) | 2 sairaudessa |
| CLIP2CAP-Gly domain containing linker protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| COL2A1collagen type II alpha 1 chain | Hyvin usein (80–99%) | 1 sairaudessa |
| DDX3XDEAD-box helicase 3 X-linked | Hyvin usein (80–99%) | 1 sairaudessa |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Hyvin usein (80–99%) | 1 sairaudessa |
| DSEdermatan sulfate epimerase | Hyvin usein (80–99%) | 2 sairaudessa |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| EHMT1euchromatic histone lysine methyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| EIF4Heukaryotic translation initiation factor 4H | Hyvin usein (80–99%) | 1 sairaudessa |
| ELNelastin | Hyvin usein (80–99%) | 2 sairaudessa |
| FBN1fibrillin 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FGFR2fibroblast growth factor receptor 2 | Hyvin usein (80–99%) | 4 sairaudessa |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Hyvin usein (80–99%) | 1 sairaudessa |
| FLNAfilamin A | Hyvin usein (80–99%) | 2 sairaudessa |
| FZD2frizzled class receptor 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| GTF2Igeneral transcription factor IIi | Hyvin usein (80–99%) | 1 sairaudessa |
| GTF2IRD1GTF2I repeat domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GTF2IRD2GTF2I repeat domain containing 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| HDAC6histone deacetylase 6 | Hyvin usein (80–99%) | 2 sairaudessa |
| HDAC8histone deacetylase 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| HIC1HIC ZBTB transcriptional repressor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LIMK1LIM domain kinase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LONP1lon peptidase 1, mitochondrial | Hyvin usein (80–99%) | 1 sairaudessa |
| LRP2LDL receptor related protein 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| LTBP3latent transforming growth factor beta binding protein 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| MAFMAF bZIP transcription factor | Hyvin usein (80–99%) | 2 sairaudessa |
| MAU2MAU2 sister chromatid cohesion factor | Hyvin usein (80–99%) | 1 sairaudessa |
| METTL27methyltransferase like 27 | Hyvin usein (80–99%) | 1 sairaudessa |
| MYMKmyomaker, myoblast fusion factor | Hyvin usein (80–99%) | 1 sairaudessa |
| MYMXmyomixer, myoblast fusion factor | Hyvin usein (80–99%) | 1 sairaudessa |
| NCF1neutrophil cytosolic factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NEXMIFneurite extension and migration factor | Hyvin usein (80–99%) | 2 sairaudessa |
| NIPBLNIPBL cohesin loading factor | Hyvin usein (80–99%) | 2 sairaudessa |
| NXNnucleoredoxin | Hyvin usein (80–99%) | 2 sairaudessa |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PAX3paired box 3 | Hyvin usein (80–99%) | 3 sairaudessa |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Hyvin usein (80–99%) | 1 sairaudessa |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| PTH1Rparathyroid hormone 1 receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| RAB18RAB18, member RAS oncogene family | Hyvin usein (80–99%) | 2 sairaudessa |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RAD21RAD21 cohesin complex component | Hyvin usein (80–99%) | 2 sairaudessa |
| RFC2replication factor C subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SETBP1SET binding protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC26A2solute carrier family 26 member 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SMC3structural maintenance of chromosomes 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| STX1Asyntaxin 1A | Hyvin usein (80–99%) | 1 sairaudessa |
| TBC1D20TBC1 domain family member 20 | Hyvin usein (80–99%) | 1 sairaudessa |
| TBL2transducin beta like 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| TCTN3tectonic family member 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM270transmembrane protein 270 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM94transmembrane protein 94 | Hyvin usein (80–99%) | 1 sairaudessa |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| VPS37DVPS37D subunit of ESCRT-I | Hyvin usein (80–99%) | 1 sairaudessa |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Hyvin usein (80–99%) | 2 sairaudessa |
| ZNHIT3zinc finger HIT-type containing 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| ADAMTSL2ADAMTS like 2 | Usein (30–79%) | 2 sairaudessa |
| ADNPactivity dependent neuroprotector homeobox | Usein (30–79%) | 1 sairaudessa |
| AFF4ALF transcription elongation factor 4 | Usein (30–79%) | 2 sairaudessa |
| ARID1AAT-rich interaction domain 1A | Usein (30–79%) | 1 sairaudessa |
| ARID1BAT-rich interaction domain 1B | Usein (30–79%) | 1 sairaudessa |
| ARID2AT-rich interaction domain 2 | Usein (30–79%) | 2 sairaudessa |
| ASXL3ASXL transcriptional regulator 3 | Usein (30–79%) | 1 sairaudessa |
| B3GALT6beta-1,3-galactosyltransferase 6 | Usein (30–79%) | 1 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Usein (30–79%) | 2 sairaudessa |
| CAV1caveolin 1 | Usein (30–79%) | 1 sairaudessa |
| CCDC22CCC complex scaffolding subunit CCDC22 | Usein (30–79%) | 1 sairaudessa |
| CDH11cadherin 11 | Usein (30–79%) | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Usein (30–79%) | 2 sairaudessa |
| DDB1damage specific DNA binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| DHCR2424-dehydrocholesterol reductase | Usein (30–79%) | 2 sairaudessa |
| DPF2double PHD fingers 2 | Usein (30–79%) | 1 sairaudessa |
| DPYDdihydropyrimidine dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| DPYSL5dihydropyrimidinase like 5 | Usein (30–79%) | 1 sairaudessa |
| FAM20CFAM20C golgi associated secretory pathway kinase | Usein (30–79%) | 2 sairaudessa |
| FBXO22F-box protein 22 | Usein (30–79%) | 1 sairaudessa |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Usein (30–79%) | 1 sairaudessa |
| FOXG1forkhead box G1 | Usein (30–79%) | 1 sairaudessa |
| FOXP1forkhead box P1 | Usein (30–79%) | 2 sairaudessa |
| FUT8fucosyltransferase 8 | Usein (30–79%) | 1 sairaudessa |
| GATA4GATA binding protein 4 | Usein (30–79%) | 1 sairaudessa |
| GJA1gap junction protein alpha 1 | Usein (30–79%) | 2 sairaudessa |
| GLI3GLI family zinc finger 3 | Usein (30–79%) | 2 sairaudessa |
| GLULglutamate-ammonia ligase | Usein (30–79%) | 1 sairaudessa |
| GNAI1G protein subunit alpha i1 | Usein (30–79%) | 1 sairaudessa |
| GPC3glypican 3 | Usein (30–79%) | 2 sairaudessa |
| GPC4glypican 4 | Usein (30–79%) | 1 sairaudessa |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Usein (30–79%) | 1 sairaudessa |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Usein (30–79%) | 1 sairaudessa |
| KICS2KICSTOR subunit 2 | Usein (30–79%) | 1 sairaudessa |
| KIF7kinesin family member 7 | Usein (30–79%) | 1 sairaudessa |
| MEF2Cmyocyte enhancer factor 2C | Usein (30–79%) | 2 sairaudessa |
| MLXIPLMLX interacting protein like | Usein (30–79%) | 1 sairaudessa |
| NCAPG2non-SMC condensin II complex subunit G2 | Usein (30–79%) | 1 sairaudessa |
| NFIXnuclear factor I X | Usein (30–79%) | 3 sairaudessa |
| PGAP2post-GPI attachment to proteins 2 | Usein (30–79%) | 1 sairaudessa |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Usein (30–79%) | 1 sairaudessa |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Usein (30–79%) | 1 sairaudessa |
| PLAAphospholipase A2 activating protein | Usein (30–79%) | 2 sairaudessa |
| PRMT7protein arginine methyltransferase 7 | Usein (30–79%) | 1 sairaudessa |
| PTCH1patched 1 | Usein (30–79%) | 3 sairaudessa |
| PUS1pseudouridine synthase 1 | Usein (30–79%) | 1 sairaudessa |
| RAI1retinoic acid induced 1 | Usein (30–79%) | 1 sairaudessa |
| RECQL4RecQ like helicase 4 | Usein (30–79%) | 2 sairaudessa |
| RNF13ring finger protein 13 | Usein (30–79%) | 2 sairaudessa |
| SC5Dsterol-C5-desaturase | Usein (30–79%) | 2 sairaudessa |
| SLC12A6solute carrier family 12 member 6 | Usein (30–79%) | 1 sairaudessa |
| SLC35D1solute carrier family 35 member D1 | Usein (30–79%) | 1 sairaudessa |
| SMAD2SMAD family member 2 | Usein (30–79%) | 1 sairaudessa |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Usein (30–79%) | 1 sairaudessa |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Usein (30–79%) | 1 sairaudessa |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Usein (30–79%) | 1 sairaudessa |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Usein (30–79%) | 1 sairaudessa |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Usein (30–79%) | 1 sairaudessa |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Usein (30–79%) | 1 sairaudessa |
| SOX11SRY-box transcription factor 11 | Usein (30–79%) | 2 sairaudessa |
| SOX4SRY-box transcription factor 4 | Usein (30–79%) | 2 sairaudessa |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Usein (30–79%) | 2 sairaudessa |
| SPOPspeckle type BTB/POZ protein | Usein (30–79%) | 1 sairaudessa |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Usein (30–79%) | 1 sairaudessa |
| VARS1valyl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| VPS35LVPS35 endosomal protein sorting factor like | Usein (30–79%) | 1 sairaudessa |
| WASHC5WASH complex subunit 5 | Usein (30–79%) | 1 sairaudessa |
| YARS2tyrosyl-tRNA synthetase 2 | Usein (30–79%) | 1 sairaudessa |
| ZNF462zinc finger protein 462 | Usein (30–79%) | 2 sairaudessa |
| ABCC8ATP binding cassette subfamily C member 8 | Joskus (5–29%) | 1 sairaudessa |
| ABCD1ATP binding cassette subfamily D member 1 | Joskus (5–29%) | 1 sairaudessa |
| ADAT3adenosine deaminase tRNA specific 3 | Joskus (5–29%) | 1 sairaudessa |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Joskus (5–29%) | 2 sairaudessa |
| APCAPC regulator of Wnt signaling pathway | Joskus (5–29%) | 1 sairaudessa |
| ATAD3AATPase family AAA domain containing 3A | Joskus (5–29%) | 2 sairaudessa |
| ATXN7L3ataxin 7 like 3 | Joskus (5–29%) | 1 sairaudessa |
| B3GLCTbeta 3-glucosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| BCAP31B cell receptor associated protein 31 | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Joskus (5–29%) | 1 sairaudessa |
| CDONcell adhesion associated, oncogene regulated | Joskus (5–29%) | 1 sairaudessa |
| CHSY1chondroitin sulfate synthase 1 | Joskus (5–29%) | 1 sairaudessa |
| CNTNAP2contactin associated protein 2 | Joskus (5–29%) | 1 sairaudessa |
| COG8component of oligomeric golgi complex 8 | Joskus (5–29%) | 1 sairaudessa |
| COX7Bcytochrome c oxidase subunit 7B | Joskus (5–29%) | 1 sairaudessa |
| CRIPTOcripto, EGF-CFC family member | Joskus (5–29%) | 1 sairaudessa |
| CTCFCCCTC-binding factor | Joskus (5–29%) | 1 sairaudessa |
| DISP1dispatched RND transporter family member 1 | Joskus (5–29%) | 1 sairaudessa |
| DLL1delta like canonical Notch ligand 1 | Joskus (5–29%) | 1 sairaudessa |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Joskus (5–29%) | 2 sairaudessa |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Joskus (5–29%) | 1 sairaudessa |
| FAR1fatty acyl-CoA reductase 1 | Joskus (5–29%) | 1 sairaudessa |
| FBXO11F-box protein 11 | Joskus (5–29%) | 1 sairaudessa |
| FGF8fibroblast growth factor 8 | Joskus (5–29%) | 1 sairaudessa |
| FOXH1forkhead box H1 | Joskus (5–29%) | 1 sairaudessa |
| FRYLFRY like transcription coactivator | Joskus (5–29%) | 1 sairaudessa |
| GAS1growth arrest specific 1 | Joskus (5–29%) | 1 sairaudessa |
| GLI2GLI family zinc finger 2 | Joskus (5–29%) | 2 sairaudessa |
| GNB2G protein subunit beta 2 | Joskus (5–29%) | 1 sairaudessa |
| GPC6glypican 6 | Joskus (5–29%) | 2 sairaudessa |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Joskus (5–29%) | 2 sairaudessa |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Joskus (5–29%) | 1 sairaudessa |
| INTS1integrator complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Joskus (5–29%) | 1 sairaudessa |
| KMT2Alysine methyltransferase 2A | Joskus (5–29%) | 1 sairaudessa |
| LMNB1lamin B1 | Joskus (5–29%) | 1 sairaudessa |
| LRP4LDL receptor related protein 4 | Joskus (5–29%) | 1 sairaudessa |
| MADDMAP kinase activating death domain | Joskus (5–29%) | 2 sairaudessa |
| MED13Lmediator complex subunit 13L | Joskus (5–29%) | 1 sairaudessa |
| MPLKIPM-phase specific PLK1 interacting protein | Joskus (5–29%) | 1 sairaudessa |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Joskus (5–29%) | 1 sairaudessa |
| NODALnodal growth differentiation factor | Joskus (5–29%) | 1 sairaudessa |
| NRCAMneuronal cell adhesion molecule | Joskus (5–29%) | 1 sairaudessa |
| PDGFRBplatelet derived growth factor receptor beta | Joskus (5–29%) | 1 sairaudessa |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Joskus (5–29%) | 2 sairaudessa |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Joskus (5–29%) | 1 sairaudessa |
| POLA1DNA polymerase alpha 1, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| PORcytochrome p450 oxidoreductase | Joskus (5–29%) | 1 sairaudessa |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Joskus (5–29%) | 1 sairaudessa |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Joskus (5–29%) | 1 sairaudessa |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Joskus (5–29%) | 1 sairaudessa |
| PTENphosphatase and tensin homolog | Joskus (5–29%) | 3 sairaudessa |
| PURApurine rich element binding protein A | Joskus (5–29%) | 1 sairaudessa |
| RBMXRNA binding motif protein X-linked | Joskus (5–29%) | 1 sairaudessa |
| RFX7regulatory factor X7 | Joskus (5–29%) | 1 sairaudessa |
| SATB2SATB homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Joskus (5–29%) | 1 sairaudessa |
| SHHsonic hedgehog signaling molecule | Joskus (5–29%) | 1 sairaudessa |
| SIN3ASIN3 transcription regulator family member A | Joskus (5–29%) | 1 sairaudessa |
| SIX3SIX homeobox 3 | Joskus (5–29%) | 1 sairaudessa |
| SLC2A10solute carrier family 2 member 10 | Joskus (5–29%) | 1 sairaudessa |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Joskus (5–29%) | 1 sairaudessa |
| SUFUSUFU negative regulator of hedgehog signaling | Joskus (5–29%) | 1 sairaudessa |
| SYT1synaptotagmin 1 | Joskus (5–29%) | 2 sairaudessa |
| TCTN2tectonic family member 2 | Joskus (5–29%) | 1 sairaudessa |
| TGIF1TGFB induced factor homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| TONSLtonsoku like, DNA repair protein | Joskus (5–29%) | 2 sairaudessa |
| TRIOtrio Rho guanine nucleotide exchange factor | Joskus (5–29%) | 2 sairaudessa |
| TRIP12thyroid hormone receptor interactor 12 | Joskus (5–29%) | 1 sairaudessa |
| TRMT10AtRNA methyltransferase 10A | Joskus (5–29%) | 1 sairaudessa |
| TXNL4Athioredoxin like 4A | Joskus (5–29%) | 1 sairaudessa |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Joskus (5–29%) | 1 sairaudessa |
| WACWW domain containing adaptor with coiled-coil | Joskus (5–29%) | 1 sairaudessa |
| WNT7AWnt family member 7A | Joskus (5–29%) | 1 sairaudessa |
| ZIC2Zic family zinc finger 2 | Joskus (5–29%) | 1 sairaudessa |
| ZMYM2zinc finger MYM-type containing 2 | Joskus (5–29%) | 1 sairaudessa |
| ZNF699zinc finger protein 699 | Joskus (5–29%) | 1 sairaudessa |
| EBF3EBF transcription factor 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| HEPACAMhepatic and glial cell adhesion molecule | Harvinainen (1–4 %) | 1 sairaudessa |
| MED16mediator complex subunit 16 | Harvinainen (1–4 %) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ei kirjattu | 1 sairaudessa |
| ACTBactin beta | Ei kirjattu | 1 sairaudessa |
| AGO1argonaute RISC component 1 | Ei kirjattu | 1 sairaudessa |
| ATRXATRX chromatin remodeler | Ei kirjattu | 1 sairaudessa |
| AVParginine vasopressin | Ei kirjattu | 1 sairaudessa |
| BLTP1bridge-like lipid transfer protein family member 1 | Ei kirjattu | 1 sairaudessa |
| BMPERBMP binding endothelial regulator | Ei kirjattu | 1 sairaudessa |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Ei kirjattu | 1 sairaudessa |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ei kirjattu | 1 sairaudessa |
| CANT1calcium activated nucleotidase 1 | Ei kirjattu | 1 sairaudessa |
| CDCA7cell division cycle associated 7 | Ei kirjattu | 1 sairaudessa |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ei kirjattu | 1 sairaudessa |
| COG7component of oligomeric golgi complex 7 | Ei kirjattu | 1 sairaudessa |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ei kirjattu | 1 sairaudessa |
| EDAectodysplasin A | Ei kirjattu | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Ei kirjattu | 1 sairaudessa |
| FLNBfilamin B | Ei kirjattu | 2 sairaudessa |
| GBA1glucosylceramidase beta 1 | Ei kirjattu | 1 sairaudessa |
| GGCXgamma-glutamyl carboxylase | Ei kirjattu | 1 sairaudessa |
| GMNNgeminin DNA replication inhibitor | Ei kirjattu | 1 sairaudessa |
| HRASHRas proto-oncogene, GTPase | Ei kirjattu | 1 sairaudessa |
| HSPA9heat shock protein family A (Hsp70) member 9 | Ei kirjattu | 1 sairaudessa |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Ei kirjattu | 1 sairaudessa |
| LIFRLIF receptor subunit alpha | Ei kirjattu | 1 sairaudessa |
| MBD5methyl-CpG binding domain protein 5 | Ei kirjattu | 1 sairaudessa |
| MOCS1molybdenum cofactor synthesis 1 | Ei kirjattu | 1 sairaudessa |
| MOCS2molybdenum cofactor synthesis 2 | Ei kirjattu | 1 sairaudessa |
| NFIAnuclear factor I A | Ei kirjattu | 1 sairaudessa |
| NPR2natriuretic peptide receptor 2 | Ei kirjattu | 1 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Ei kirjattu | 1 sairaudessa |
| PAM16presequence translocase associated motor 16 | Ei kirjattu | 1 sairaudessa |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| PEPDpeptidase D | Ei kirjattu | 1 sairaudessa |
| PEX6peroxisomal biogenesis factor 6 | Ei kirjattu | 1 sairaudessa |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ei kirjattu | 1 sairaudessa |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ei kirjattu | 1 sairaudessa |
| PLA2G6phospholipase A2 group VI | Ei kirjattu | 1 sairaudessa |
| POU1F1POU class 1 homeobox 1 | Ei kirjattu | 1 sairaudessa |
| PUF60poly(U) binding splicing factor 60 | Ei kirjattu | 1 sairaudessa |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ei kirjattu | 1 sairaudessa |
| RPS7ribosomal protein S7 | Ei kirjattu | 1 sairaudessa |
| SLC25A24solute carrier family 25 member 24 | Ei kirjattu | 1 sairaudessa |
| SMOsmoothened, frizzled class receptor | Ei kirjattu | 1 sairaudessa |
| SMOC1SPARC related modular calcium binding 1 | Ei kirjattu | 1 sairaudessa |
| STAMBPSTAM binding protein | Ei kirjattu | 1 sairaudessa |
| TAPT1transmembrane anterior posterior transformation 1 | Ei kirjattu | 1 sairaudessa |
| TBL1XR1TBL1X/Y related 1 | Ei kirjattu | 1 sairaudessa |
| TCF20transcription factor 20 | Ei kirjattu | 1 sairaudessa |
| TRRAPtransformation/transcription domain associated protein | Ei kirjattu | 1 sairaudessa |
| UBE3Bubiquitin protein ligase E3B | Ei kirjattu | 1 sairaudessa |
| ZBTB24zinc finger and BTB domain containing 24 | Ei kirjattu | 1 sairaudessa |
| ZSWIM6zinc finger SWIM-type containing 6 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
Yksi testi. Vastauksia koko elämäksi.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa