Cecha
Inguinal hernia
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Podsumowanie
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Inguinal hernia, and the rest of your genome, with one test.
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Zamawiam Genome Test339 genów powiązanych z Inguinal hernia
Zmiany w tych genach powodują rzadkie choroby, w których występuje Inguinal hernia. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ABCD4ATP binding cassette subfamily D member 4 | Zawsze | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Zawsze | W 1 chorobie |
| ATAD1ATPase family AAA domain containing 1 | Zawsze | W 1 chorobie |
| BRD4bromodomain containing 4 | Zawsze | W 1 chorobie |
| CACHD1cache domain containing 1 | Zawsze | W 1 chorobie |
| CIROZciliated left-right organizer protein containing ZP-N domains | Zawsze | W 1 chorobie |
| COL3A1collagen type III alpha 1 chain | Zawsze | W 1 chorobie |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Zawsze | W 1 chorobie |
| DHRS3dehydrogenase/reductase 3 | Zawsze | W 1 chorobie |
| DMRT2doublesex and mab-3 related transcription factor 2 | Zawsze | W 1 chorobie |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Zawsze | W 1 chorobie |
| DSEdermatan sulfate epimerase | Zawsze | W 2 chorobach |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Zawsze | W 1 chorobie |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Zawsze | W 3 chorobach |
| ERI1exoribonuclease 1 | Zawsze | W 1 chorobie |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Zawsze | W 1 chorobie |
| FAT4FAT atypical cadherin 4 | Zawsze | W 1 chorobie |
| FBXL4F-box and leucine rich repeat protein 4 | Zawsze | W 1 chorobie |
| FIBPFGF1 intracellular binding protein | Zawsze | W 2 chorobach |
| GATA4GATA binding protein 4 | Zawsze | W 1 chorobie |
| GNPATglyceronephosphate O-acyltransferase | Zawsze | W 1 chorobie |
| IDUAalpha-L-iduronidase | Zawsze | W 2 chorobach |
| KDM2Blysine demethylase 2B | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| MAN2B2mannosidase alpha class 2B member 2 | Zawsze | W 1 chorobie |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Zawsze | W 1 chorobie |
| MED16mediator complex subunit 16 | Zawsze | W 1 chorobie |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Zawsze | W 1 chorobie |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Zawsze | W 1 chorobie |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Zawsze | W 1 chorobie |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Zawsze | W 1 chorobie |
| POLR1ARNA polymerase I subunit A | Zawsze | W 1 chorobie |
| PYCR1pyrroline-5-carboxylate reductase 1 | Zawsze | W 2 chorobach |
| SERPINH1serpin family H member 1 | Zawsze | W 1 chorobie |
| SLC37A4solute carrier family 37 member 4 | Zawsze | W 1 chorobie |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Zawsze | W 1 chorobie |
| TAF4TATA-box binding protein associated factor 4 | Zawsze | W 1 chorobie |
| TGFBR1transforming growth factor beta receptor 1 | Zawsze | W 2 chorobach |
| TGFBR2transforming growth factor beta receptor 2 | Zawsze | W 2 chorobach |
| TMEM107transmembrane protein 107 | Zawsze | W 1 chorobie |
Pokaż jeszcze 299 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| TOR1Atorsin family 1 member A | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 1 chorobie |
| WDR19WD repeat domain 19 | Zawsze | W 1 chorobie |
| WDR35WD repeat domain 35 | Zawsze | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Bardzo często (80–99%) | W 1 chorobie |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Bardzo często (80–99%) | W 4 chorobach |
| ATP7AATPase copper transporting alpha | Bardzo często (80–99%) | W 2 chorobach |
| CUL4Bcullin 4B | Bardzo często (80–99%) | W 1 chorobie |
| FLNAfilamin A | Bardzo często (80–99%) | W 1 chorobie |
| GUSBglucuronidase beta | Bardzo często (80–99%) | W 1 chorobie |
| IRX5iroquois homeobox 5 | Bardzo często (80–99%) | W 1 chorobie |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Bardzo często (80–99%) | W 1 chorobie |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Bardzo często (80–99%) | W 2 chorobach |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Często (30–79%) | W 1 chorobie |
| AEBP1AE binding protein 1 | Często (30–79%) | W 2 chorobach |
| AHDC1AT-hook DNA binding motif containing 1 | Często (30–79%) | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Często (30–79%) | W 2 chorobach |
| AMHanti-Mullerian hormone | Często (30–79%) | W 2 chorobach |
| AMHR2anti-Mullerian hormone receptor type 2 | Często (30–79%) | W 2 chorobach |
| ARID1AAT-rich interaction domain 1A | Często (30–79%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Często (30–79%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Często (30–79%) | W 2 chorobach |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Często (30–79%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Często (30–79%) | W 1 chorobie |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Często (30–79%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Często (30–79%) | W 1 chorobie |
| CLDN19claudin 19 | Często (30–79%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Często (30–79%) | W 1 chorobie |
| COL1A1collagen type I alpha 1 chain | Często (30–79%) | W 3 chorobach |
| COL1A2collagen type I alpha 2 chain | Często (30–79%) | W 3 chorobach |
| COX11cytochrome c oxidase copper chaperone COX11 | Często (30–79%) | W 1 chorobie |
| DICER1dicer 1, ribonuclease III | Często (30–79%) | W 1 chorobie |
| DLK1delta like non-canonical Notch ligand 1 | Często (30–79%) | W 1 chorobie |
| DLX4distal-less homeobox 4 | Często (30–79%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Często (30–79%) | W 1 chorobie |
| DPP9dipeptidyl peptidase 9 | Często (30–79%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Często (30–79%) | W 1 chorobie |
| ELNelastin | Często (30–79%) | W 5 chorobach |
| ELOVL4ELOVL fatty acid elongase 4 | Często (30–79%) | W 1 chorobie |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Często (30–79%) | W 2 chorobach |
| FAAP100FA core complex associated protein 100 | Często (30–79%) | W 1 chorobie |
| FBLN5fibulin 5 | Często (30–79%) | W 3 chorobach |
| FBN1fibrillin 1 | Często (30–79%) | W 2 chorobach |
| FEM1Bfem-1 homolog B | Często (30–79%) | W 1 chorobie |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Często (30–79%) | W 2 chorobach |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Często (30–79%) | W 1 chorobie |
| FOCADfocadhesin | Często (30–79%) | W 1 chorobie |
| GDF11growth differentiation factor 11 | Często (30–79%) | W 1 chorobie |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Często (30–79%) | W 3 chorobach |
| GNSglucosamine (N-acetyl)-6-sulfatase | Często (30–79%) | W 1 chorobie |
| GPC3glypican 3 | Często (30–79%) | W 2 chorobach |
| GPC4glypican 4 | Często (30–79%) | W 1 chorobie |
| GTF2Igeneral transcription factor IIi | Często (30–79%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Często (30–79%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Często (30–79%) | W 1 chorobie |
| HOXC13homeobox C13 | Często (30–79%) | W 1 chorobie |
| HSD17B3hydroxysteroid 17-beta dehydrogenase 3 | Często (30–79%) | W 1 chorobie |
| IFT122intraflagellar transport 122 | Często (30–79%) | W 1 chorobie |
| IFT140intraflagellar transport 140 | Często (30–79%) | W 1 chorobie |
| IFT56intraflagellar transport 56 | Często (30–79%) | W 1 chorobie |
| IPO8importin 8 | Często (30–79%) | W 1 chorobie |
| ISL1ISL LIM homeobox 1 | Często (30–79%) | W 1 chorobie |
| KDM5Blysine demethylase 5B | Często (30–79%) | W 1 chorobie |
| KIF7kinesin family member 7 | Często (30–79%) | W 3 chorobach |
| LIMK1LIM domain kinase 1 | Często (30–79%) | W 1 chorobie |
| LTBP1latent transforming growth factor beta binding protein 1 | Często (30–79%) | W 2 chorobach |
| LTBP4latent transforming growth factor beta binding protein 4 | Często (30–79%) | W 1 chorobie |
| MDFICMyoD family inhibitor domain containing | Często (30–79%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Często (30–79%) | W 3 chorobach |
| MEG3maternally expressed 3 | Często (30–79%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Często (30–79%) | W 1 chorobie |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Często (30–79%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Często (30–79%) | W 2 chorobach |
| NALCNsodium leak channel, non-selective | Często (30–79%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Często (30–79%) | W 1 chorobie |
| NOTCH3notch receptor 3 | Często (30–79%) | W 2 chorobach |
| NSD1nuclear receptor binding SET domain protein 1 | Często (30–79%) | W 2 chorobach |
| OFD1OFD1 centriole and centriolar satellite protein | Często (30–79%) | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Często (30–79%) | W 2 chorobach |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Często (30–79%) | W 1 chorobie |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Często (30–79%) | W 1 chorobie |
| PTDSS1phosphatidylserine synthase 1 | Często (30–79%) | W 2 chorobach |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Często (30–79%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Często (30–79%) | W 1 chorobie |
| RIPK4receptor interacting serine/threonine kinase 4 | Często (30–79%) | W 1 chorobie |
| RNF13ring finger protein 13 | Często (30–79%) | W 2 chorobach |
| RPL10ribosomal protein L10 | Często (30–79%) | W 2 chorobach |
| RTL1retrotransposon Gag like 1 | Często (30–79%) | W 1 chorobie |
| SEC31ASEC31 homolog A, COPII component | Często (30–79%) | W 1 chorobie |
| SGSHN-sulfoglucosamine sulfohydrolase | Często (30–79%) | W 1 chorobie |
| SHPKsedoheptulokinase | Często (30–79%) | W 1 chorobie |
| SKISKI proto-oncogene | Często (30–79%) | W 2 chorobach |
| SLC10A7solute carrier family 10 member 7 | Często (30–79%) | W 1 chorobie |
| SLC2A10solute carrier family 2 member 10 | Często (30–79%) | W 2 chorobach |
| SLC5A6solute carrier family 5 member 6 | Często (30–79%) | W 1 chorobie |
| SMAD2SMAD family member 2 | Często (30–79%) | W 2 chorobach |
| SMAD3SMAD family member 3 | Często (30–79%) | W 3 chorobach |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Często (30–79%) | W 1 chorobie |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Często (30–79%) | W 1 chorobie |
| STX1Asyntaxin 1A | Często (30–79%) | W 1 chorobie |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Często (30–79%) | W 1 chorobie |
| TBL2transducin beta like 2 | Często (30–79%) | W 1 chorobie |
| TGFB2transforming growth factor beta 2 | Często (30–79%) | W 2 chorobach |
| TMEM270transmembrane protein 270 | Często (30–79%) | W 1 chorobie |
| TP63tumor protein p63 | Często (30–79%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Często (30–79%) | W 1 chorobie |
| ZEB1zinc finger E-box binding homeobox 1 | Często (30–79%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Często (30–79%) | W 1 chorobie |
| ACTA2actin alpha 2, smooth muscle | Czasami (5–29%) | W 1 chorobie |
| AGAaspartylglucosaminidase | Czasami (5–29%) | W 1 chorobie |
| ARPC4actin related protein 2/3 complex subunit 4 | Czasami (5–29%) | W 1 chorobie |
| ARSBarylsulfatase B | Czasami (5–29%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Czasami (5–29%) | W 1 chorobie |
| ARXaristaless related homeobox | Czasami (5–29%) | W 1 chorobie |
| AUTS2activator of transcription and developmental regulator AUTS2 | Czasami (5–29%) | W 2 chorobach |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Czasami (5–29%) | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Czasami (5–29%) | W 1 chorobie |
| BCL11ABCL11 transcription factor A | Czasami (5–29%) | W 1 chorobie |
| BCRBCR activator of RhoGEF and GTPase | Czasami (5–29%) | W 1 chorobie |
| BRF1BRF1 general transcription factor IIIB subunit | Czasami (5–29%) | W 1 chorobie |
| BRPF1bromodomain and PHD finger containing 1 | Czasami (5–29%) | W 1 chorobie |
| CC2D2Acoiled-coil and C2 domain containing 2A | Czasami (5–29%) | W 1 chorobie |
| CCDC22CCC complex scaffolding subunit CCDC22 | Czasami (5–29%) | W 1 chorobie |
| CDC42cell division cycle 42 | Czasami (5–29%) | W 2 chorobach |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Czasami (5–29%) | W 1 chorobie |
| CHD3chromodomain helicase DNA binding protein 3 | Czasami (5–29%) | W 1 chorobie |
| CHRNGcholinergic receptor nicotinic gamma subunit | Czasami (5–29%) | W 2 chorobach |
| CHST3carbohydrate sulfotransferase 3 | Czasami (5–29%) | W 1 chorobie |
| COL5A1collagen type V alpha 1 chain | Czasami (5–29%) | W 2 chorobach |
| COL5A2collagen type V alpha 2 chain | Czasami (5–29%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Czasami (5–29%) | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Czasami (5–29%) | W 2 chorobach |
| CRELD1CRELD disulfide isomerase 1 | Czasami (5–29%) | W 1 chorobie |
| CRKLCRK like proto-oncogene, adaptor protein | Czasami (5–29%) | W 1 chorobie |
| CSNK2A1casein kinase 2 alpha 1 | Czasami (5–29%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Czasami (5–29%) | W 1 chorobie |
| CTNND2catenin delta 2 | Czasami (5–29%) | W 1 chorobie |
| CWC27CWC27 spliceosome associated cyclophilin | Czasami (5–29%) | W 1 chorobie |
| DGCR2DiGeorge syndrome critical region gene 2 | Czasami (5–29%) | W 1 chorobie |
| DGCR6DiGeorge syndrome critical region gene 6 | Czasami (5–29%) | W 1 chorobie |
| DGCR8DGCR8 microprocessor complex subunit | Czasami (5–29%) | W 1 chorobie |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Czasami (5–29%) | W 1 chorobie |
| DLL3delta like canonical Notch ligand 3 | Czasami (5–29%) | W 1 chorobie |
| DPH1diphthamide biosynthesis 1 | Czasami (5–29%) | W 1 chorobie |
| DPH2diphthamide biosynthesis 2 | Czasami (5–29%) | W 1 chorobie |
| DPYSL5dihydropyrimidinase like 5 | Czasami (5–29%) | W 1 chorobie |
| DVL1dishevelled segment polarity protein 1 | Czasami (5–29%) | W 2 chorobach |
| DVL3dishevelled segment polarity protein 3 | Czasami (5–29%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Czasami (5–29%) | W 1 chorobie |
| EHMT1euchromatic histone lysine methyltransferase 1 | Czasami (5–29%) | W 3 chorobach |
| EMILIN1elastin microfibril interfacer 1 | Czasami (5–29%) | W 1 chorobie |
| ESS2ess-2 spliceosome associated protein | Czasami (5–29%) | W 1 chorobie |
| FANCBFA complementation group B | Czasami (5–29%) | W 1 chorobie |
| FBXW11F-box and WD repeat domain containing 11 | Czasami (5–29%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Czasami (5–29%) | W 2 chorobach |
| FKBP14FKBP prolyl isomerase 14 | Czasami (5–29%) | W 1 chorobie |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Czasami (5–29%) | W 1 chorobie |
| FOXE3forkhead box E3 | Czasami (5–29%) | W 1 chorobie |
| FZD2frizzled class receptor 2 | Czasami (5–29%) | W 1 chorobie |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Czasami (5–29%) | W 1 chorobie |
| GATA6GATA binding protein 6 | Czasami (5–29%) | W 1 chorobie |
| GDF1growth differentiation factor 1 | Czasami (5–29%) | W 1 chorobie |
| GLI3GLI family zinc finger 3 | Czasami (5–29%) | W 3 chorobach |
| GNB2G protein subunit beta 2 | Czasami (5–29%) | W 1 chorobie |
| GP1BBglycoprotein Ib platelet subunit beta | Czasami (5–29%) | W 1 chorobie |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Czasami (5–29%) | W 1 chorobie |
| GZF1GDNF inducible zinc finger protein 1 | Czasami (5–29%) | W 1 chorobie |
| H19H19 imprinted maternally expressed transcript | Czasami (5–29%) | W 1 chorobie |
| HES7hes family bHLH transcription factor 7 | Czasami (5–29%) | W 1 chorobie |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Czasami (5–29%) | W 1 chorobie |
| HIRAhistone cell cycle regulator | Czasami (5–29%) | W 1 chorobie |
| HMGA2high mobility group AT-hook 2 | Czasami (5–29%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Czasami (5–29%) | W 2 chorobach |
| IGF2insulin like growth factor 2 | Czasami (5–29%) | W 2 chorobach |
| INPP5Einositol polyphosphate-5-phosphatase E | Czasami (5–29%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Czasami (5–29%) | W 1 chorobie |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Czasami (5–29%) | W 1 chorobie |
| KDM3Blysine demethylase 3B | Czasami (5–29%) | W 1 chorobie |
| KMT2Clysine methyltransferase 2C | Czasami (5–29%) | W 1 chorobie |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Czasami (5–29%) | W 1 chorobie |
| LOXlysyl oxidase | Czasami (5–29%) | W 1 chorobie |
| LRPPRCleucine rich pentatricopeptide repeat containing | Czasami (5–29%) | W 1 chorobie |
| MAFMAF bZIP transcription factor | Czasami (5–29%) | W 1 chorobie |
| MAPK1mitogen-activated protein kinase 1 | Czasami (5–29%) | W 1 chorobie |
| MAPRE2microtubule associated protein RP/EB family member 2 | Czasami (5–29%) | W 1 chorobie |
| MAT2Amethionine adenosyltransferase 2A | Czasami (5–29%) | W 1 chorobie |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Czasami (5–29%) | W 2 chorobach |
| MED25mediator complex subunit 25 | Czasami (5–29%) | W 2 chorobach |
| MEIS2Meis homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| MESP2mesoderm posterior bHLH transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| MFAP5microfibril associated protein 5 | Czasami (5–29%) | W 1 chorobie |
| MID1midline 1 | Czasami (5–29%) | W 2 chorobach |
| MLXIPLMLX interacting protein like | Czasami (5–29%) | W 1 chorobie |
| MSL2MSL complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| MYH11myosin heavy chain 11 | Czasami (5–29%) | W 1 chorobie |
| MYH3myosin heavy chain 3 | Czasami (5–29%) | W 3 chorobach |
| MYLKmyosin light chain kinase | Czasami (5–29%) | W 1 chorobie |
| NEU1neuraminidase 1 | Czasami (5–29%) | W 3 chorobach |
| NIPBLNIPBL cohesin loading factor | Czasami (5–29%) | W 1 chorobie |
| NOTCH1notch receptor 1 | Czasami (5–29%) | W 1 chorobie |
| NOTCH2notch receptor 2 | Czasami (5–29%) | W 2 chorobach |
| NPHP3nephrocystin 3 | Czasami (5–29%) | W 1 chorobie |
| NXNnucleoredoxin | Czasami (5–29%) | W 1 chorobie |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Czasami (5–29%) | W 1 chorobie |
| ODC1ornithine decarboxylase 1 | Czasami (5–29%) | W 1 chorobie |
| P3H1prolyl 3-hydroxylase 1 | Czasami (5–29%) | W 1 chorobie |
| PACS1phosphofurin acidic cluster sorting protein 1 | Czasami (5–29%) | W 1 chorobie |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Czasami (5–29%) | W 1 chorobie |
| PHGDHphosphoglycerate dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Czasami (5–29%) | W 1 chorobie |
| PLAG1PLAG1 zinc finger | Czasami (5–29%) | W 1 chorobie |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Czasami (5–29%) | W 2 chorobach |
| POGZpogo transposable element derived with ZNF domain | Czasami (5–29%) | W 2 chorobach |
| POLR2ARNA polymerase II subunit A | Czasami (5–29%) | W 1 chorobie |
| PORCNporcupine O-acyltransferase | Czasami (5–29%) | W 2 chorobach |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Czasami (5–29%) | W 1 chorobie |
| PRDM5PR/SET domain 5 | Czasami (5–29%) | W 1 chorobie |
| PRKG1protein kinase cGMP-dependent 1 | Czasami (5–29%) | W 1 chorobie |
| PUF60poly(U) binding splicing factor 60 | Czasami (5–29%) | W 1 chorobie |
| RAP1BRAP1B, member of RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RELREL proto-oncogene, NF-kB subunit | Czasami (5–29%) | W 1 chorobie |
| RIC1RIC1 partner of RAB6A GEF complex | Czasami (5–29%) | W 1 chorobie |
| RIPPLY2ripply transcriptional repressor 2 | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| ROR2ROR family WNT receptor 2 | Czasami (5–29%) | W 2 chorobach |
| RPGRIP1LRPGRIP1 like | Czasami (5–29%) | W 1 chorobie |
| RPL17ribosomal protein L17 | Czasami (5–29%) | W 1 chorobie |
| RPS6KA3ribosomal protein S6 kinase A3 | Czasami (5–29%) | W 2 chorobach |
| RREB1ras responsive element binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Czasami (5–29%) | W 1 chorobie |
| SEMA5Asemaphorin 5A | Czasami (5–29%) | W 1 chorobie |
| SETSET nuclear proto-oncogene | Czasami (5–29%) | W 1 chorobie |
| SETD5SET domain containing 5 | Czasami (5–29%) | W 1 chorobie |
| SH3PXD2BSH3 and PX domains 2B | Czasami (5–29%) | W 1 chorobie |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Czasami (5–29%) | W 1 chorobie |
| SMAD4SMAD family member 4 | Czasami (5–29%) | W 2 chorobach |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Czasami (5–29%) | W 1 chorobie |
| SRCAPSnf2 related CREBBP activator protein | Czasami (5–29%) | W 1 chorobie |
| TASP1taspase 1 | Czasami (5–29%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Czasami (5–29%) | W 3 chorobach |
| TBX6T-box transcription factor 6 | Czasami (5–29%) | W 1 chorobie |
| TGFB3transforming growth factor beta 3 | Czasami (5–29%) | W 2 chorobach |
| THSD4thrombospondin type 1 domain containing 4 | Czasami (5–29%) | W 1 chorobie |
| TMEM67transmembrane protein 67 | Czasami (5–29%) | W 1 chorobie |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Czasami (5–29%) | W 1 chorobie |
| TRAF7TNF receptor associated factor 7 | Czasami (5–29%) | W 1 chorobie |
| TRIM33tripartite motif containing 33 | Czasami (5–29%) | W 1 chorobie |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Czasami (5–29%) | W 1 chorobie |
| TUBBtubulin beta class I | Czasami (5–29%) | W 1 chorobie |
| TXNL4Athioredoxin like 4A | Czasami (5–29%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Czasami (5–29%) | W 1 chorobie |
| VPS35LVPS35 endosomal protein sorting factor like | Czasami (5–29%) | W 1 chorobie |
| WASHC5WASH complex subunit 5 | Czasami (5–29%) | W 1 chorobie |
| WNT5AWnt family member 5A | Czasami (5–29%) | W 2 chorobach |
| XPO1exportin 1 | Czasami (5–29%) | W 1 chorobie |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Czasami (5–29%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Rzadko (1–4%) | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Rzadko (1–4%) | W 1 chorobie |
| CHST14carbohydrate sulfotransferase 14 | Rzadko (1–4%) | W 1 chorobie |
| CLCN4Cl-/H+ antiporter 4 | Rzadko (1–4%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Rzadko (1–4%) | W 1 chorobie |
| SKIC2SKI2 subunit of superkiller complex | Rzadko (1–4%) | W 1 chorobie |
| SKIC3SKI3 subunit of superkiller complex | Rzadko (1–4%) | W 1 chorobie |
| TRRAPtransformation/transcription domain associated protein | Rzadko (1–4%) | W 1 chorobie |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Nie odnotowano | W 1 chorobie |
| ARandrogen receptor | Nie odnotowano | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Nie odnotowano | W 1 chorobie |
| ASPNATaspartate N-acetyltransferase | Nie odnotowano | W 1 chorobie |
| BMPERBMP binding endothelial regulator | Nie odnotowano | W 1 chorobie |
| BRAT1BRCA1 associated ATM activator 1 | Nie odnotowano | W 1 chorobie |
| C1Rcomplement C1r | Nie odnotowano | W 1 chorobie |
| C1Scomplement C1s | Nie odnotowano | W 1 chorobie |
| CBScystathionine beta-synthase | Nie odnotowano | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Nie odnotowano | W 2 chorobach |
| DDX6DEAD-box helicase 6 | Nie odnotowano | W 1 chorobie |
| FLNBfilamin B | Nie odnotowano | W 1 chorobie |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Nie odnotowano | W 1 chorobie |
| GLB1galactosidase beta 1 | Nie odnotowano | W 2 chorobach |
| GLRA1glycine receptor alpha 1 | Nie odnotowano | W 1 chorobie |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Nie odnotowano | W 1 chorobie |
| GPHNgephyrin | Nie odnotowano | W 1 chorobie |
| IDSiduronate 2-sulfatase | Nie odnotowano | W 1 chorobie |
| LDHDlactate dehydrogenase D | Nie odnotowano | W 1 chorobie |
| MAN2B1mannosidase alpha class 2B member 1 | Nie odnotowano | W 1 chorobie |
| NFIAnuclear factor I A | Nie odnotowano | W 1 chorobie |
| PLD1phospholipase D1 | Nie odnotowano | W 1 chorobie |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Nie odnotowano | W 1 chorobie |
| SATB2SATB homeobox 2 | Nie odnotowano | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Nie odnotowano | W 1 chorobie |
| SLC26A2solute carrier family 26 member 2 | Nie odnotowano | W 1 chorobie |
| STRA6signaling receptor and transporter of retinol STRA6 | Nie odnotowano | W 1 chorobie |
| TBX3T-box transcription factor 3 | Nie odnotowano | W 1 chorobie |
| TGDSTDP-glucose 4,6-dehydratase | Nie odnotowano | W 1 chorobie |
| TMCO1transmembrane and coiled-coil domains 1 | Nie odnotowano | W 1 chorobie |
| TMEM70transmembrane protein 70 | Nie odnotowano | W 1 chorobie |
| UBA1ubiquitin like modifier activating enzyme 1 | Nie odnotowano | W 1 chorobie |
| WNK3WNK lysine deficient protein kinase 3 | Nie odnotowano | W 1 chorobie |
| XRCC4X-ray repair cross complementing 4 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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