AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Egenskap
Inguinal hernia
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Sammendrag
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
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/inguinal-hernia.json"
page <- fromJSON(url)
page$trait$nameInguinal herniaHP:0000023
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Les genene knyttet til Inguinal hernia, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test339 gener knyttet til Inguinal hernia
Endringer i disse genene forårsaker sjeldne tilstander der Inguinal hernia 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 |
|---|---|---|
| ABCD4ATP binding cassette subfamily D member 4 | Alltid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Alltid | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Alltid | I 1 tilstand |
| BRD4bromodomain containing 4 | Alltid | I 1 tilstand |
| CACHD1cache domain containing 1 | Alltid | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Alltid | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Alltid | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Alltid | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Alltid | I 1 tilstand |
| DMRT2doublesex and mab-3 related transcription factor 2 | Alltid | I 1 tilstand |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Alltid | I 1 tilstand |
| DSEdermatan sulfate epimerase | Alltid | I 2 tilstander |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Alltid | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Alltid | I 3 tilstander |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alltid | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Alltid | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Alltid | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Alltid | I 2 tilstander |
| GATA4GATA binding protein 4 | Alltid | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Alltid | I 1 tilstand |
| IDUAalpha-L-iduronidase | Alltid | I 2 tilstander |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| MAN2B2mannosidase alpha class 2B member 2 | Alltid | I 1 tilstand |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alltid | I 1 tilstand |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Alltid | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alltid | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Alltid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alltid | I 2 tilstander |
| SERPINH1serpin family H member 1 | Alltid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Alltid | I 1 tilstand |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Alltid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Alltid | I 2 tilstander |
| TGFBR2transforming growth factor beta receptor 2 | Alltid | I 2 tilstander |
| TMEM107transmembrane protein 107 | Alltid | I 1 tilstand |
Vis 299 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| TOR1Atorsin family 1 member A | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 1 tilstand |
| WDR19WD repeat domain 19 | Alltid | I 1 tilstand |
| WDR35WD repeat domain 35 | Alltid | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Svært ofte (80–99 %) | I 4 tilstander |
| ATP7AATPase copper transporting alpha | Svært ofte (80–99 %) | I 2 tilstander |
| CUL4Bcullin 4B | Svært ofte (80–99 %) | I 1 tilstand |
| FLNAfilamin A | Svært ofte (80–99 %) | I 1 tilstand |
| GUSBglucuronidase beta | Svært ofte (80–99 %) | I 1 tilstand |
| IRX5iroquois homeobox 5 | Svært ofte (80–99 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Ofte (30–79 %) | I 1 tilstand |
| AEBP1AE binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 2 tilstander |
| AMHanti-Mullerian hormone | Ofte (30–79 %) | I 2 tilstander |
| AMHR2anti-Mullerian hormone receptor type 2 | Ofte (30–79 %) | I 2 tilstander |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 2 tilstander |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofte (30–79 %) | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| CLDN19claudin 19 | Ofte (30–79 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofte (30–79 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Ofte (30–79 %) | I 3 tilstander |
| COL1A2collagen type I alpha 2 chain | Ofte (30–79 %) | I 3 tilstander |
| COX11cytochrome c oxidase copper chaperone COX11 | Ofte (30–79 %) | I 1 tilstand |
| DICER1dicer 1, ribonuclease III | Ofte (30–79 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| DLX4distal-less homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DPP9dipeptidyl peptidase 9 | Ofte (30–79 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 5 tilstander |
| ELOVL4ELOVL fatty acid elongase 4 | Ofte (30–79 %) | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Ofte (30–79 %) | I 2 tilstander |
| FAAP100FA core complex associated protein 100 | Ofte (30–79 %) | I 1 tilstand |
| FBLN5fibulin 5 | Ofte (30–79 %) | I 3 tilstander |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 2 tilstander |
| FEM1Bfem-1 homolog B | Ofte (30–79 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Ofte (30–79 %) | I 2 tilstander |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofte (30–79 %) | I 1 tilstand |
| FOCADfocadhesin | Ofte (30–79 %) | I 1 tilstand |
| GDF11growth differentiation factor 11 | Ofte (30–79 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ofte (30–79 %) | I 3 tilstander |
| GNSglucosamine (N-acetyl)-6-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| GPC3glypican 3 | Ofte (30–79 %) | I 2 tilstander |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| HOXC13homeobox C13 | Ofte (30–79 %) | I 1 tilstand |
| HSD17B3hydroxysteroid 17-beta dehydrogenase 3 | Ofte (30–79 %) | I 1 tilstand |
| IFT122intraflagellar transport 122 | Ofte (30–79 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Ofte (30–79 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 1 tilstand |
| ISL1ISL LIM homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| KDM5Blysine demethylase 5B | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 3 tilstander |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| LTBP4latent transforming growth factor beta binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| MDFICMyoD family inhibitor domain containing | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 3 tilstander |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Ofte (30–79 %) | I 1 tilstand |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Ofte (30–79 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ofte (30–79 %) | I 2 tilstander |
| NALCNsodium leak channel, non-selective | Ofte (30–79 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Ofte (30–79 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 2 tilstander |
| NSD1nuclear receptor binding SET domain protein 1 | Ofte (30–79 %) | I 2 tilstander |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ofte (30–79 %) | I 2 tilstander |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ofte (30–79 %) | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Ofte (30–79 %) | I 2 tilstander |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Ofte (30–79 %) | I 2 tilstander |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 2 tilstander |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 1 tilstand |
| SEC31ASEC31 homolog A, COPII component | Ofte (30–79 %) | I 1 tilstand |
| SGSHN-sulfoglucosamine sulfohydrolase | Ofte (30–79 %) | I 1 tilstand |
| SHPKsedoheptulokinase | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 2 tilstander |
| SLC10A7solute carrier family 10 member 7 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Ofte (30–79 %) | I 2 tilstander |
| SLC5A6solute carrier family 5 member 6 | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 2 tilstander |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 3 tilstander |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Ofte (30–79 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Ofte (30–79 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Ofte (30–79 %) | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Ofte (30–79 %) | I 2 tilstander |
| TMEM270transmembrane protein 270 | Ofte (30–79 %) | I 1 tilstand |
| TP63tumor protein p63 | Ofte (30–79 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Ofte (30–79 %) | I 1 tilstand |
| ZEB1zinc finger E-box binding homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Ofte (30–79 %) | I 1 tilstand |
| ACTA2actin alpha 2, smooth muscle | Noen ganger (5–29 %) | I 1 tilstand |
| AGAaspartylglucosaminidase | Noen ganger (5–29 %) | I 1 tilstand |
| ARPC4actin related protein 2/3 complex subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ARSBarylsulfatase B | Noen ganger (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Noen ganger (5–29 %) | I 1 tilstand |
| ARXaristaless related homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Noen ganger (5–29 %) | I 2 tilstander |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Noen ganger (5–29 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Noen ganger (5–29 %) | I 2 tilstander |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Noen ganger (5–29 %) | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Noen ganger (5–29 %) | I 2 tilstander |
| CHST3carbohydrate sulfotransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| COL5A1collagen type V alpha 1 chain | Noen ganger (5–29 %) | I 2 tilstander |
| COL5A2collagen type V alpha 2 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CRKLCRK like proto-oncogene, adaptor protein | Noen ganger (5–29 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 1 tilstand |
| CTNND2catenin delta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Noen ganger (5–29 %) | I 1 tilstand |
| DGCR2DiGeorge syndrome critical region gene 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DLL3delta like canonical Notch ligand 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DPH1diphthamide biosynthesis 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DVL3dishevelled segment polarity protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Noen ganger (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Noen ganger (5–29 %) | I 3 tilstander |
| EMILIN1elastin microfibril interfacer 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ESS2ess-2 spliceosome associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FKBP14FKBP prolyl isomerase 14 | Noen ganger (5–29 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| FOXE3forkhead box E3 | Noen ganger (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| GDF1growth differentiation factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Noen ganger (5–29 %) | I 3 tilstander |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Noen ganger (5–29 %) | I 1 tilstand |
| GZF1GDNF inducible zinc finger protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Noen ganger (5–29 %) | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Noen ganger (5–29 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 2 tilstander |
| IGF2insulin like growth factor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| INPP5Einositol polyphosphate-5-phosphatase E | Noen ganger (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Noen ganger (5–29 %) | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Noen ganger (5–29 %) | I 1 tilstand |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| LOXlysyl oxidase | Noen ganger (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Noen ganger (5–29 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAT2Amethionine adenosyltransferase 2A | Noen ganger (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MED25mediator complex subunit 25 | Noen ganger (5–29 %) | I 2 tilstander |
| MEIS2Meis homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MESP2mesoderm posterior bHLH transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MFAP5microfibril associated protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MID1midline 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MLXIPLMLX interacting protein like | Noen ganger (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYH11myosin heavy chain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Noen ganger (5–29 %) | I 3 tilstander |
| MYLKmyosin light chain kinase | Noen ganger (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Noen ganger (5–29 %) | I 3 tilstander |
| NIPBLNIPBL cohesin loading factor | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| NPHP3nephrocystin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NXNnucleoredoxin | Noen ganger (5–29 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| ODC1ornithine decarboxylase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| P3H1prolyl 3-hydroxylase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Noen ganger (5–29 %) | I 1 tilstand |
| PLAG1PLAG1 zinc finger | Noen ganger (5–29 %) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| POGZpogo transposable element derived with ZNF domain | Noen ganger (5–29 %) | I 2 tilstander |
| POLR2ARNA polymerase II subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Noen ganger (5–29 %) | I 1 tilstand |
| PRDM5PR/SET domain 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKG1protein kinase cGMP-dependent 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Noen ganger (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RIC1RIC1 partner of RAB6A GEF complex | Noen ganger (5–29 %) | I 1 tilstand |
| RIPPLY2ripply transcriptional repressor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| RPGRIP1LRPGRIP1 like | Noen ganger (5–29 %) | I 1 tilstand |
| RPL17ribosomal protein L17 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Noen ganger (5–29 %) | I 2 tilstander |
| RREB1ras responsive element binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA5Asemaphorin 5A | Noen ganger (5–29 %) | I 1 tilstand |
| SETSET nuclear proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Noen ganger (5–29 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Noen ganger (5–29 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Noen ganger (5–29 %) | I 1 tilstand |
| TASP1taspase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 3 tilstander |
| TBX6T-box transcription factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Noen ganger (5–29 %) | I 2 tilstander |
| THSD4thrombospondin type 1 domain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Noen ganger (5–29 %) | I 1 tilstand |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM33tripartite motif containing 33 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBBtubulin beta class I | Noen ganger (5–29 %) | I 1 tilstand |
| TXNL4Athioredoxin like 4A | Noen ganger (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Noen ganger (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Noen ganger (5–29 %) | I 2 tilstander |
| XPO1exportin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Sjelden (1–4%) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjelden (1–4%) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Sjelden (1–4%) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Sjelden (1–4%) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Sjelden (1–4%) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Sjelden (1–4%) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Sjelden (1–4%) | I 1 tilstand |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Ikke registrert | I 1 tilstand |
| ARandrogen receptor | Ikke registrert | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ikke registrert | I 1 tilstand |
| ASPNATaspartate N-acetyltransferase | Ikke registrert | I 1 tilstand |
| BMPERBMP binding endothelial regulator | Ikke registrert | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Ikke registrert | I 1 tilstand |
| C1Rcomplement C1r | Ikke registrert | I 1 tilstand |
| C1Scomplement C1s | Ikke registrert | I 1 tilstand |
| CBScystathionine beta-synthase | Ikke registrert | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ikke registrert | I 2 tilstander |
| DDX6DEAD-box helicase 6 | Ikke registrert | I 1 tilstand |
| FLNBfilamin B | Ikke registrert | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Ikke registrert | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registrert | I 2 tilstander |
| GLRA1glycine receptor alpha 1 | Ikke registrert | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ikke registrert | I 1 tilstand |
| GPHNgephyrin | Ikke registrert | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registrert | I 1 tilstand |
| LDHDlactate dehydrogenase D | Ikke registrert | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registrert | I 1 tilstand |
| NFIAnuclear factor I A | Ikke registrert | I 1 tilstand |
| PLD1phospholipase D1 | Ikke registrert | I 1 tilstand |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Ikke registrert | I 1 tilstand |
| SATB2SATB homeobox 2 | Ikke registrert | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ikke registrert | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Ikke registrert | I 1 tilstand |
| STRA6signaling receptor and transporter of retinol STRA6 | Ikke registrert | I 1 tilstand |
| TBX3T-box transcription factor 3 | Ikke registrert | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Ikke registrert | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Ikke registrert | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registrert | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Ikke registrert | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registrert | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | 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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