Piirre
Inguinal hernia
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Yhteenveto
- Elimistön järjestelmä
- Abnormality of the digestive systemAbnormality of the musculoskeletal system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Inguinal hernia, and the rest of your genome, with one test.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test339 geeniä, jotka liittyvät piirteeseen Inguinal hernia
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Inguinal hernia 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 |
|---|---|---|
| ABCD4ATP binding cassette subfamily D member 4 | Aina | 1 sairaudessa |
| ARID2AT-rich interaction domain 2 | Aina | 1 sairaudessa |
| ATAD1ATPase family AAA domain containing 1 | Aina | 1 sairaudessa |
| BRD4bromodomain containing 4 | Aina | 1 sairaudessa |
| CACHD1cache domain containing 1 | Aina | 1 sairaudessa |
| CIROZciliated left-right organizer protein containing ZP-N domains | Aina | 1 sairaudessa |
| COL3A1collagen type III alpha 1 chain | Aina | 1 sairaudessa |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Aina | 1 sairaudessa |
| DHRS3dehydrogenase/reductase 3 | Aina | 1 sairaudessa |
| DMRT2doublesex and mab-3 related transcription factor 2 | Aina | 1 sairaudessa |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Aina | 1 sairaudessa |
| DSEdermatan sulfate epimerase | Aina | 2 sairaudessa |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Aina | 1 sairaudessa |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Aina | 3 sairaudessa |
| ERI1exoribonuclease 1 | Aina | 1 sairaudessa |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Aina | 1 sairaudessa |
| FAT4FAT atypical cadherin 4 | Aina | 1 sairaudessa |
| FBXL4F-box and leucine rich repeat protein 4 | Aina | 1 sairaudessa |
| FIBPFGF1 intracellular binding protein | Aina | 2 sairaudessa |
| GATA4GATA binding protein 4 | Aina | 1 sairaudessa |
| GNPATglyceronephosphate O-acyltransferase | Aina | 1 sairaudessa |
| IDUAalpha-L-iduronidase | Aina | 2 sairaudessa |
| KDM2Blysine demethylase 2B | Aina | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Aina | 1 sairaudessa |
| MAN2B2mannosidase alpha class 2B member 2 | Aina | 1 sairaudessa |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Aina | 1 sairaudessa |
| MED16mediator complex subunit 16 | Aina | 1 sairaudessa |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Aina | 1 sairaudessa |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Aina | 1 sairaudessa |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Aina | 1 sairaudessa |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Aina | 1 sairaudessa |
| POLR1ARNA polymerase I subunit A | Aina | 1 sairaudessa |
| PYCR1pyrroline-5-carboxylate reductase 1 | Aina | 2 sairaudessa |
| SERPINH1serpin family H member 1 | Aina | 1 sairaudessa |
| SLC37A4solute carrier family 37 member 4 | Aina | 1 sairaudessa |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Aina | 1 sairaudessa |
| TAF4TATA-box binding protein associated factor 4 | Aina | 1 sairaudessa |
| TGFBR1transforming growth factor beta receptor 1 | Aina | 2 sairaudessa |
| TGFBR2transforming growth factor beta receptor 2 | Aina | 2 sairaudessa |
| TMEM107transmembrane protein 107 | Aina | 1 sairaudessa |
Näytä 299 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| TOR1Atorsin family 1 member A | Aina | 1 sairaudessa |
| UNC13Aunc-13 homolog A | Aina | 1 sairaudessa |
| WDR19WD repeat domain 19 | Aina | 1 sairaudessa |
| WDR35WD repeat domain 35 | Aina | 1 sairaudessa |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Hyvin usein (80–99%) | 4 sairaudessa |
| ATP7AATPase copper transporting alpha | Hyvin usein (80–99%) | 2 sairaudessa |
| CUL4Bcullin 4B | Hyvin usein (80–99%) | 1 sairaudessa |
| FLNAfilamin A | Hyvin usein (80–99%) | 1 sairaudessa |
| GUSBglucuronidase beta | Hyvin usein (80–99%) | 1 sairaudessa |
| IRX5iroquois homeobox 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Usein (30–79%) | 1 sairaudessa |
| AEBP1AE binding protein 1 | Usein (30–79%) | 2 sairaudessa |
| AHDC1AT-hook DNA binding motif containing 1 | Usein (30–79%) | 1 sairaudessa |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Usein (30–79%) | 2 sairaudessa |
| AMHanti-Mullerian hormone | Usein (30–79%) | 2 sairaudessa |
| AMHR2anti-Mullerian hormone receptor type 2 | Usein (30–79%) | 2 sairaudessa |
| ARID1AAT-rich interaction domain 1A | Usein (30–79%) | 1 sairaudessa |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Usein (30–79%) | 1 sairaudessa |
| ATP6V1AATPase H+ transporting V1 subunit A | Usein (30–79%) | 2 sairaudessa |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Usein (30–79%) | 1 sairaudessa |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Usein (30–79%) | 1 sairaudessa |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Usein (30–79%) | 1 sairaudessa |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Usein (30–79%) | 1 sairaudessa |
| CLDN19claudin 19 | Usein (30–79%) | 1 sairaudessa |
| CLIP2CAP-Gly domain containing linker protein 2 | Usein (30–79%) | 1 sairaudessa |
| COL1A1collagen type I alpha 1 chain | Usein (30–79%) | 3 sairaudessa |
| COL1A2collagen type I alpha 2 chain | Usein (30–79%) | 3 sairaudessa |
| COX11cytochrome c oxidase copper chaperone COX11 | Usein (30–79%) | 1 sairaudessa |
| DICER1dicer 1, ribonuclease III | Usein (30–79%) | 1 sairaudessa |
| DLK1delta like non-canonical Notch ligand 1 | Usein (30–79%) | 1 sairaudessa |
| DLX4distal-less homeobox 4 | Usein (30–79%) | 1 sairaudessa |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Usein (30–79%) | 1 sairaudessa |
| DPP9dipeptidyl peptidase 9 | Usein (30–79%) | 1 sairaudessa |
| EIF4Heukaryotic translation initiation factor 4H | Usein (30–79%) | 1 sairaudessa |
| ELNelastin | Usein (30–79%) | 5 sairaudessa |
| ELOVL4ELOVL fatty acid elongase 4 | Usein (30–79%) | 1 sairaudessa |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Usein (30–79%) | 2 sairaudessa |
| FAAP100FA core complex associated protein 100 | Usein (30–79%) | 1 sairaudessa |
| FBLN5fibulin 5 | Usein (30–79%) | 3 sairaudessa |
| FBN1fibrillin 1 | Usein (30–79%) | 2 sairaudessa |
| FEM1Bfem-1 homolog B | Usein (30–79%) | 1 sairaudessa |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Usein (30–79%) | 2 sairaudessa |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Usein (30–79%) | 1 sairaudessa |
| FOCADfocadhesin | Usein (30–79%) | 1 sairaudessa |
| GDF11growth differentiation factor 11 | Usein (30–79%) | 1 sairaudessa |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Usein (30–79%) | 3 sairaudessa |
| GNSglucosamine (N-acetyl)-6-sulfatase | Usein (30–79%) | 1 sairaudessa |
| GPC3glypican 3 | Usein (30–79%) | 2 sairaudessa |
| GPC4glypican 4 | Usein (30–79%) | 1 sairaudessa |
| GTF2Igeneral transcription factor IIi | Usein (30–79%) | 1 sairaudessa |
| GTF2IRD1GTF2I repeat domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| GTF2IRD2GTF2I repeat domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| HOXC13homeobox C13 | Usein (30–79%) | 1 sairaudessa |
| HSD17B3hydroxysteroid 17-beta dehydrogenase 3 | Usein (30–79%) | 1 sairaudessa |
| IFT122intraflagellar transport 122 | Usein (30–79%) | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Usein (30–79%) | 1 sairaudessa |
| IFT56intraflagellar transport 56 | Usein (30–79%) | 1 sairaudessa |
| IPO8importin 8 | Usein (30–79%) | 1 sairaudessa |
| ISL1ISL LIM homeobox 1 | Usein (30–79%) | 1 sairaudessa |
| KDM5Blysine demethylase 5B | Usein (30–79%) | 1 sairaudessa |
| KIF7kinesin family member 7 | Usein (30–79%) | 3 sairaudessa |
| LIMK1LIM domain kinase 1 | Usein (30–79%) | 1 sairaudessa |
| LTBP1latent transforming growth factor beta binding protein 1 | Usein (30–79%) | 2 sairaudessa |
| LTBP4latent transforming growth factor beta binding protein 4 | Usein (30–79%) | 1 sairaudessa |
| MDFICMyoD family inhibitor domain containing | Usein (30–79%) | 1 sairaudessa |
| MED12mediator complex subunit 12 | Usein (30–79%) | 3 sairaudessa |
| MEG3maternally expressed 3 | Usein (30–79%) | 1 sairaudessa |
| METTL27methyltransferase like 27 | Usein (30–79%) | 1 sairaudessa |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Usein (30–79%) | 1 sairaudessa |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Usein (30–79%) | 2 sairaudessa |
| NALCNsodium leak channel, non-selective | Usein (30–79%) | 1 sairaudessa |
| NCF1neutrophil cytosolic factor 1 | Usein (30–79%) | 1 sairaudessa |
| NOTCH3notch receptor 3 | Usein (30–79%) | 2 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Usein (30–79%) | 2 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Usein (30–79%) | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Usein (30–79%) | 2 sairaudessa |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Usein (30–79%) | 1 sairaudessa |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Usein (30–79%) | 1 sairaudessa |
| PTDSS1phosphatidylserine synthase 1 | Usein (30–79%) | 2 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Usein (30–79%) | 1 sairaudessa |
| RFC2replication factor C subunit 2 | Usein (30–79%) | 1 sairaudessa |
| RIPK4receptor interacting serine/threonine kinase 4 | Usein (30–79%) | 1 sairaudessa |
| RNF13ring finger protein 13 | Usein (30–79%) | 2 sairaudessa |
| RPL10ribosomal protein L10 | Usein (30–79%) | 2 sairaudessa |
| RTL1retrotransposon Gag like 1 | Usein (30–79%) | 1 sairaudessa |
| SEC31ASEC31 homolog A, COPII component | Usein (30–79%) | 1 sairaudessa |
| SGSHN-sulfoglucosamine sulfohydrolase | Usein (30–79%) | 1 sairaudessa |
| SHPKsedoheptulokinase | Usein (30–79%) | 1 sairaudessa |
| SKISKI proto-oncogene | Usein (30–79%) | 2 sairaudessa |
| SLC10A7solute carrier family 10 member 7 | Usein (30–79%) | 1 sairaudessa |
| SLC2A10solute carrier family 2 member 10 | Usein (30–79%) | 2 sairaudessa |
| SLC5A6solute carrier family 5 member 6 | Usein (30–79%) | 1 sairaudessa |
| SMAD2SMAD family member 2 | Usein (30–79%) | 2 sairaudessa |
| SMAD3SMAD family member 3 | Usein (30–79%) | 3 sairaudessa |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Usein (30–79%) | 1 sairaudessa |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Usein (30–79%) | 1 sairaudessa |
| STX1Asyntaxin 1A | Usein (30–79%) | 1 sairaudessa |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Usein (30–79%) | 1 sairaudessa |
| TBL2transducin beta like 2 | Usein (30–79%) | 1 sairaudessa |
| TGFB2transforming growth factor beta 2 | Usein (30–79%) | 2 sairaudessa |
| TMEM270transmembrane protein 270 | Usein (30–79%) | 1 sairaudessa |
| TP63tumor protein p63 | Usein (30–79%) | 1 sairaudessa |
| VPS37DVPS37D subunit of ESCRT-I | Usein (30–79%) | 1 sairaudessa |
| ZEB1zinc finger E-box binding homeobox 1 | Usein (30–79%) | 1 sairaudessa |
| ZFXzinc finger protein X-linked | Usein (30–79%) | 1 sairaudessa |
| ACTA2actin alpha 2, smooth muscle | Joskus (5–29%) | 1 sairaudessa |
| AGAaspartylglucosaminidase | Joskus (5–29%) | 1 sairaudessa |
| ARPC4actin related protein 2/3 complex subunit 4 | Joskus (5–29%) | 1 sairaudessa |
| ARSBarylsulfatase B | Joskus (5–29%) | 1 sairaudessa |
| ARVCFARVCF delta catenin family member | Joskus (5–29%) | 1 sairaudessa |
| ARXaristaless related homeobox | Joskus (5–29%) | 1 sairaudessa |
| AUTS2activator of transcription and developmental regulator AUTS2 | Joskus (5–29%) | 2 sairaudessa |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Joskus (5–29%) | 1 sairaudessa |
| B3GLCTbeta 3-glucosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| BCL11ABCL11 transcription factor A | Joskus (5–29%) | 1 sairaudessa |
| BCRBCR activator of RhoGEF and GTPase | Joskus (5–29%) | 1 sairaudessa |
| BRF1BRF1 general transcription factor IIIB subunit | Joskus (5–29%) | 1 sairaudessa |
| BRPF1bromodomain and PHD finger containing 1 | Joskus (5–29%) | 1 sairaudessa |
| CC2D2Acoiled-coil and C2 domain containing 2A | Joskus (5–29%) | 1 sairaudessa |
| CCDC22CCC complex scaffolding subunit CCDC22 | Joskus (5–29%) | 1 sairaudessa |
| CDC42cell division cycle 42 | Joskus (5–29%) | 2 sairaudessa |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Joskus (5–29%) | 1 sairaudessa |
| CHD3chromodomain helicase DNA binding protein 3 | Joskus (5–29%) | 1 sairaudessa |
| CHRNGcholinergic receptor nicotinic gamma subunit | Joskus (5–29%) | 2 sairaudessa |
| CHST3carbohydrate sulfotransferase 3 | Joskus (5–29%) | 1 sairaudessa |
| COL5A1collagen type V alpha 1 chain | Joskus (5–29%) | 2 sairaudessa |
| COL5A2collagen type V alpha 2 chain | Joskus (5–29%) | 1 sairaudessa |
| COMTcatechol-O-methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Joskus (5–29%) | 2 sairaudessa |
| CRELD1CRELD disulfide isomerase 1 | Joskus (5–29%) | 1 sairaudessa |
| CRKLCRK like proto-oncogene, adaptor protein | Joskus (5–29%) | 1 sairaudessa |
| CSNK2A1casein kinase 2 alpha 1 | Joskus (5–29%) | 1 sairaudessa |
| CTCFCCCTC-binding factor | Joskus (5–29%) | 1 sairaudessa |
| CTNND2catenin delta 2 | Joskus (5–29%) | 1 sairaudessa |
| CWC27CWC27 spliceosome associated cyclophilin | Joskus (5–29%) | 1 sairaudessa |
| DGCR2DiGeorge syndrome critical region gene 2 | Joskus (5–29%) | 1 sairaudessa |
| DGCR6DiGeorge syndrome critical region gene 6 | Joskus (5–29%) | 1 sairaudessa |
| DGCR8DGCR8 microprocessor complex subunit | Joskus (5–29%) | 1 sairaudessa |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Joskus (5–29%) | 1 sairaudessa |
| DLL3delta like canonical Notch ligand 3 | Joskus (5–29%) | 1 sairaudessa |
| DPH1diphthamide biosynthesis 1 | Joskus (5–29%) | 1 sairaudessa |
| DPH2diphthamide biosynthesis 2 | Joskus (5–29%) | 1 sairaudessa |
| DPYSL5dihydropyrimidinase like 5 | Joskus (5–29%) | 1 sairaudessa |
| DVL1dishevelled segment polarity protein 1 | Joskus (5–29%) | 2 sairaudessa |
| DVL3dishevelled segment polarity protein 3 | Joskus (5–29%) | 1 sairaudessa |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Joskus (5–29%) | 1 sairaudessa |
| EHMT1euchromatic histone lysine methyltransferase 1 | Joskus (5–29%) | 3 sairaudessa |
| EMILIN1elastin microfibril interfacer 1 | Joskus (5–29%) | 1 sairaudessa |
| ESS2ess-2 spliceosome associated protein | Joskus (5–29%) | 1 sairaudessa |
| FANCBFA complementation group B | Joskus (5–29%) | 1 sairaudessa |
| FBXW11F-box and WD repeat domain containing 11 | Joskus (5–29%) | 1 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Joskus (5–29%) | 2 sairaudessa |
| FKBP14FKBP prolyl isomerase 14 | Joskus (5–29%) | 1 sairaudessa |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Joskus (5–29%) | 1 sairaudessa |
| FOXE3forkhead box E3 | Joskus (5–29%) | 1 sairaudessa |
| FZD2frizzled class receptor 2 | Joskus (5–29%) | 1 sairaudessa |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| GATA6GATA binding protein 6 | Joskus (5–29%) | 1 sairaudessa |
| GDF1growth differentiation factor 1 | Joskus (5–29%) | 1 sairaudessa |
| GLI3GLI family zinc finger 3 | Joskus (5–29%) | 3 sairaudessa |
| GNB2G protein subunit beta 2 | Joskus (5–29%) | 1 sairaudessa |
| GP1BBglycoprotein Ib platelet subunit beta | Joskus (5–29%) | 1 sairaudessa |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Joskus (5–29%) | 1 sairaudessa |
| GZF1GDNF inducible zinc finger protein 1 | Joskus (5–29%) | 1 sairaudessa |
| H19H19 imprinted maternally expressed transcript | Joskus (5–29%) | 1 sairaudessa |
| HES7hes family bHLH transcription factor 7 | Joskus (5–29%) | 1 sairaudessa |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Joskus (5–29%) | 1 sairaudessa |
| HIRAhistone cell cycle regulator | Joskus (5–29%) | 1 sairaudessa |
| HMGA2high mobility group AT-hook 2 | Joskus (5–29%) | 1 sairaudessa |
| HSPG2heparan sulfate proteoglycan 2 | Joskus (5–29%) | 2 sairaudessa |
| IGF2insulin like growth factor 2 | Joskus (5–29%) | 2 sairaudessa |
| INPP5Einositol polyphosphate-5-phosphatase E | Joskus (5–29%) | 1 sairaudessa |
| JMJD1Cjumonji domain containing 1C | Joskus (5–29%) | 1 sairaudessa |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Joskus (5–29%) | 1 sairaudessa |
| KDM3Blysine demethylase 3B | Joskus (5–29%) | 1 sairaudessa |
| KMT2Clysine methyltransferase 2C | Joskus (5–29%) | 1 sairaudessa |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Joskus (5–29%) | 1 sairaudessa |
| LOXlysyl oxidase | Joskus (5–29%) | 1 sairaudessa |
| LRPPRCleucine rich pentatricopeptide repeat containing | Joskus (5–29%) | 1 sairaudessa |
| MAFMAF bZIP transcription factor | Joskus (5–29%) | 1 sairaudessa |
| MAPK1mitogen-activated protein kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| MAPRE2microtubule associated protein RP/EB family member 2 | Joskus (5–29%) | 1 sairaudessa |
| MAT2Amethionine adenosyltransferase 2A | Joskus (5–29%) | 1 sairaudessa |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Joskus (5–29%) | 2 sairaudessa |
| MED25mediator complex subunit 25 | Joskus (5–29%) | 2 sairaudessa |
| MEIS2Meis homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| MESP2mesoderm posterior bHLH transcription factor 2 | Joskus (5–29%) | 1 sairaudessa |
| MFAP5microfibril associated protein 5 | Joskus (5–29%) | 1 sairaudessa |
| MID1midline 1 | Joskus (5–29%) | 2 sairaudessa |
| MLXIPLMLX interacting protein like | Joskus (5–29%) | 1 sairaudessa |
| MSL2MSL complex subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| MYH11myosin heavy chain 11 | Joskus (5–29%) | 1 sairaudessa |
| MYH3myosin heavy chain 3 | Joskus (5–29%) | 3 sairaudessa |
| MYLKmyosin light chain kinase | Joskus (5–29%) | 1 sairaudessa |
| NEU1neuraminidase 1 | Joskus (5–29%) | 3 sairaudessa |
| NIPBLNIPBL cohesin loading factor | Joskus (5–29%) | 1 sairaudessa |
| NOTCH1notch receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| NOTCH2notch receptor 2 | Joskus (5–29%) | 2 sairaudessa |
| NPHP3nephrocystin 3 | Joskus (5–29%) | 1 sairaudessa |
| NXNnucleoredoxin | Joskus (5–29%) | 1 sairaudessa |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Joskus (5–29%) | 1 sairaudessa |
| ODC1ornithine decarboxylase 1 | Joskus (5–29%) | 1 sairaudessa |
| P3H1prolyl 3-hydroxylase 1 | Joskus (5–29%) | 1 sairaudessa |
| PACS1phosphofurin acidic cluster sorting protein 1 | Joskus (5–29%) | 1 sairaudessa |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| PHGDHphosphoglycerate dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Joskus (5–29%) | 1 sairaudessa |
| PLAG1PLAG1 zinc finger | Joskus (5–29%) | 1 sairaudessa |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Joskus (5–29%) | 2 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Joskus (5–29%) | 2 sairaudessa |
| POLR2ARNA polymerase II subunit A | Joskus (5–29%) | 1 sairaudessa |
| PORCNporcupine O-acyltransferase | Joskus (5–29%) | 2 sairaudessa |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Joskus (5–29%) | 1 sairaudessa |
| PRDM5PR/SET domain 5 | Joskus (5–29%) | 1 sairaudessa |
| PRKG1protein kinase cGMP-dependent 1 | Joskus (5–29%) | 1 sairaudessa |
| PUF60poly(U) binding splicing factor 60 | Joskus (5–29%) | 1 sairaudessa |
| RAP1BRAP1B, member of RAS oncogene family | Joskus (5–29%) | 1 sairaudessa |
| RELREL proto-oncogene, NF-kB subunit | Joskus (5–29%) | 1 sairaudessa |
| RIC1RIC1 partner of RAB6A GEF complex | Joskus (5–29%) | 1 sairaudessa |
| RIPPLY2ripply transcriptional repressor 2 | Joskus (5–29%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Joskus (5–29%) | 1 sairaudessa |
| ROR2ROR family WNT receptor 2 | Joskus (5–29%) | 2 sairaudessa |
| RPGRIP1LRPGRIP1 like | Joskus (5–29%) | 1 sairaudessa |
| RPL17ribosomal protein L17 | Joskus (5–29%) | 1 sairaudessa |
| RPS6KA3ribosomal protein S6 kinase A3 | Joskus (5–29%) | 2 sairaudessa |
| RREB1ras responsive element binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SEC24CSEC24 homolog C, COPII component | Joskus (5–29%) | 1 sairaudessa |
| SEMA5Asemaphorin 5A | Joskus (5–29%) | 1 sairaudessa |
| SETSET nuclear proto-oncogene | Joskus (5–29%) | 1 sairaudessa |
| SETD5SET domain containing 5 | Joskus (5–29%) | 1 sairaudessa |
| SH3PXD2BSH3 and PX domains 2B | Joskus (5–29%) | 1 sairaudessa |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Joskus (5–29%) | 1 sairaudessa |
| SMAD4SMAD family member 4 | Joskus (5–29%) | 2 sairaudessa |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Joskus (5–29%) | 1 sairaudessa |
| SRCAPSnf2 related CREBBP activator protein | Joskus (5–29%) | 1 sairaudessa |
| TASP1taspase 1 | Joskus (5–29%) | 1 sairaudessa |
| TBX1T-box transcription factor 1 | Joskus (5–29%) | 3 sairaudessa |
| TBX6T-box transcription factor 6 | Joskus (5–29%) | 1 sairaudessa |
| TGFB3transforming growth factor beta 3 | Joskus (5–29%) | 2 sairaudessa |
| THSD4thrombospondin type 1 domain containing 4 | Joskus (5–29%) | 1 sairaudessa |
| TMEM67transmembrane protein 67 | Joskus (5–29%) | 1 sairaudessa |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Joskus (5–29%) | 1 sairaudessa |
| TRAF7TNF receptor associated factor 7 | Joskus (5–29%) | 1 sairaudessa |
| TRIM33tripartite motif containing 33 | Joskus (5–29%) | 1 sairaudessa |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Joskus (5–29%) | 1 sairaudessa |
| TUBBtubulin beta class I | Joskus (5–29%) | 1 sairaudessa |
| TXNL4Athioredoxin like 4A | Joskus (5–29%) | 1 sairaudessa |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Joskus (5–29%) | 1 sairaudessa |
| VPS35LVPS35 endosomal protein sorting factor like | Joskus (5–29%) | 1 sairaudessa |
| WASHC5WASH complex subunit 5 | Joskus (5–29%) | 1 sairaudessa |
| WNT5AWnt family member 5A | Joskus (5–29%) | 2 sairaudessa |
| XPO1exportin 1 | Joskus (5–29%) | 1 sairaudessa |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Joskus (5–29%) | 1 sairaudessa |
| ADNPactivity dependent neuroprotector homeobox | Harvinainen (1–4 %) | 1 sairaudessa |
| APC2APC regulator of Wnt signaling pathway 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| CHST14carbohydrate sulfotransferase 14 | Harvinainen (1–4 %) | 1 sairaudessa |
| CLCN4Cl-/H+ antiporter 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| SETBP1SET binding protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SKIC2SKI2 subunit of superkiller complex | Harvinainen (1–4 %) | 1 sairaudessa |
| SKIC3SKI3 subunit of superkiller complex | Harvinainen (1–4 %) | 1 sairaudessa |
| TRRAPtransformation/transcription domain associated protein | Harvinainen (1–4 %) | 1 sairaudessa |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Ei kirjattu | 1 sairaudessa |
| ARandrogen receptor | Ei kirjattu | 1 sairaudessa |
| ARID1BAT-rich interaction domain 1B | Ei kirjattu | 1 sairaudessa |
| ASPNATaspartate N-acetyltransferase | Ei kirjattu | 1 sairaudessa |
| BMPERBMP binding endothelial regulator | Ei kirjattu | 1 sairaudessa |
| BRAT1BRCA1 associated ATM activator 1 | Ei kirjattu | 1 sairaudessa |
| C1Rcomplement C1r | Ei kirjattu | 1 sairaudessa |
| C1Scomplement C1s | Ei kirjattu | 1 sairaudessa |
| CBScystathionine beta-synthase | Ei kirjattu | 1 sairaudessa |
| COL2A1collagen type II alpha 1 chain | Ei kirjattu | 2 sairaudessa |
| DDX6DEAD-box helicase 6 | Ei kirjattu | 1 sairaudessa |
| FLNBfilamin B | Ei kirjattu | 1 sairaudessa |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Ei kirjattu | 1 sairaudessa |
| GLB1galactosidase beta 1 | Ei kirjattu | 2 sairaudessa |
| GLRA1glycine receptor alpha 1 | Ei kirjattu | 1 sairaudessa |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ei kirjattu | 1 sairaudessa |
| GPHNgephyrin | Ei kirjattu | 1 sairaudessa |
| IDSiduronate 2-sulfatase | Ei kirjattu | 1 sairaudessa |
| LDHDlactate dehydrogenase D | Ei kirjattu | 1 sairaudessa |
| MAN2B1mannosidase alpha class 2B member 1 | Ei kirjattu | 1 sairaudessa |
| NFIAnuclear factor I A | Ei kirjattu | 1 sairaudessa |
| PLD1phospholipase D1 | Ei kirjattu | 1 sairaudessa |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Ei kirjattu | 1 sairaudessa |
| SATB2SATB homeobox 2 | Ei kirjattu | 1 sairaudessa |
| SIN3ASIN3 transcription regulator family member A | Ei kirjattu | 1 sairaudessa |
| SLC26A2solute carrier family 26 member 2 | Ei kirjattu | 1 sairaudessa |
| STRA6signaling receptor and transporter of retinol STRA6 | Ei kirjattu | 1 sairaudessa |
| TBX3T-box transcription factor 3 | Ei kirjattu | 1 sairaudessa |
| TGDSTDP-glucose 4,6-dehydratase | Ei kirjattu | 1 sairaudessa |
| TMCO1transmembrane and coiled-coil domains 1 | Ei kirjattu | 1 sairaudessa |
| TMEM70transmembrane protein 70 | Ei kirjattu | 1 sairaudessa |
| UBA1ubiquitin like modifier activating enzyme 1 | Ei kirjattu | 1 sairaudessa |
| WNK3WNK lysine deficient protein kinase 3 | Ei kirjattu | 1 sairaudessa |
| XRCC4X-ray repair cross complementing 4 | 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