Træk
Umbilical hernia
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Resumé
- Også kaldet
- Umbilical hernias
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Umbilical hernia ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Altid | I 2 tilstande |
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Altid | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Altid | I 2 tilstande |
| BCL11BBCL11 transcription factor B | Altid | I 1 tilstand |
| BMP1bone morphogenetic protein 1 | Altid | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Altid | I 1 tilstand |
| EEDembryonic ectoderm development | Altid | I 1 tilstand |
| EN1engrailed homeobox 1 | Altid | I 1 tilstand |
| FBN1fibrillin 1 | Altid | I 2 tilstande |
| FBXL4F-box and leucine rich repeat protein 4 | Altid | I 1 tilstand |
| FLNAfilamin A | Altid | I 2 tilstande |
| GUSBglucuronidase beta | Altid | I 2 tilstande |
| IDUAalpha-L-iduronidase | Altid | I 2 tilstande |
| IFT140intraflagellar transport 140 | Altid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Altid | I 1 tilstand |
| LBRlamin B receptor | Altid | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Altid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Altid | I 2 tilstande |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Altid | I 1 tilstand |
| PRKG2protein kinase cGMP-dependent 2 | Altid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Altid | I 1 tilstand |
| SLC35D1solute carrier family 35 member D1 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| AGAaspartylglucosaminidase | Meget ofte (80–99 %) | I 1 tilstand |
| ARSBarylsulfatase B | Meget ofte (80–99 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Meget ofte (80–99 %) | I 1 tilstand |
| ELMO2engulfment and cell motility 2 | Meget ofte (80–99 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Meget ofte (80–99 %) | I 2 tilstande |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Meget ofte (80–99 %) | I 3 tilstande |
| HYMAIhydatidiform mole associated and imprinted | Meget ofte (80–99 %) | I 2 tilstande |
| ISL1ISL LIM homeobox 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Meget ofte (80–99 %) | I 2 tilstande |
| PAX8paired box 8 | Meget ofte (80–99 %) | I 3 tilstande |
| PLAGL1PLAG1 like zinc finger 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Meget ofte (80–99 %) | I 1 tilstand |
| PTCH1patched 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Meget ofte (80–99 %) | I 3 tilstande |
Vis 290 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| TP63tumor protein p63 | Meget ofte (80–99 %) | I 2 tilstande |
| ABCC8ATP binding cassette subfamily C member 8 | Ofte (30–79 %) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 2 tilstande |
| AEBP1AE binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| ANTXR1ANTXR cell adhesion molecule 1 | Ofte (30–79 %) | I 2 tilstande |
| ATAD1ATPase family AAA domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ofte (30–79 %) | I 2 tilstande |
| 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 2 tilstande |
| DUOX2dual oxidase 2 | Ofte (30–79 %) | I 2 tilstande |
| DUOXA2dual oxidase maturation factor 2 | Ofte (30–79 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 3 tilstande |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 1 tilstand |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Ofte (30–79 %) | I 1 tilstand |
| FKBP14FKBP prolyl isomerase 14 | Ofte (30–79 %) | I 1 tilstand |
| FOCADfocadhesin | Ofte (30–79 %) | I 1 tilstand |
| FOXE1forkhead box E1 | Ofte (30–79 %) | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| GLRA1glycine receptor alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| GLRBglycine receptor beta | Ofte (30–79 %) | I 1 tilstand |
| GPC3glypican 3 | Ofte (30–79 %) | I 2 tilstande |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| GPHNgephyrin | Ofte (30–79 %) | I 2 tilstande |
| H4C3H4 clustered histone 3 | Ofte (30–79 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 1 tilstand |
| IYDiodotyrosine deiodinase | Ofte (30–79 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 2 tilstande |
| LHX3LIM homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| LRP2LDL receptor related protein 2 | Ofte (30–79 %) | I 2 tilstande |
| LTBP4latent transforming growth factor beta binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 2 tilstande |
| MYH3myosin heavy chain 3 | Ofte (30–79 %) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 2 tilstande |
| NXNnucleoredoxin | Ofte (30–79 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 2 tilstande |
| POLR3GLRNA polymerase III subunit GL | Ofte (30–79 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Ofte (30–79 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Ofte (30–79 %) | I 2 tilstande |
| RNF2ring finger protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 2 tilstande |
| SEC31ASEC31 homolog A, COPII component | Ofte (30–79 %) | I 1 tilstand |
| SGSHN-sulfoglucosamine sulfohydrolase | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 2 tilstande |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC26A4solute carrier family 26 member 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC5A5solute carrier family 5 member 5 | Ofte (30–79 %) | I 2 tilstande |
| SLC6A5solute carrier family 6 member 5 | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 2 tilstande |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofte (30–79 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Ofte (30–79 %) | I 1 tilstand |
| TFE3transcription factor binding to IGHM enhancer 3 | Ofte (30–79 %) | I 1 tilstand |
| TGthyroglobulin | Ofte (30–79 %) | I 1 tilstand |
| TOR1Atorsin family 1 member A | Ofte (30–79 %) | I 1 tilstand |
| TPOthyroid peroxidase | Ofte (30–79 %) | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Ofte (30–79 %) | I 1 tilstand |
| TSHBthyroid stimulating hormone subunit beta | Ofte (30–79 %) | I 2 tilstande |
| TSHRthyroid stimulating hormone receptor | Ofte (30–79 %) | I 2 tilstande |
| TWIST2twist family bHLH transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 2 tilstande |
| ZFP57ZFP57 zinc finger protein | Ofte (30–79 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACTBactin beta | Nogle gange (5–29 %) | I 1 tilstand |
| ACTG2actin gamma 2, smooth muscle | Nogle gange (5–29 %) | I 2 tilstande |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Nogle gange (5–29 %) | I 2 tilstande |
| B3GLCTbeta 3-glucosyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BCORBCL6 corepressor | Nogle gange (5–29 %) | I 1 tilstand |
| BGNbiglycan | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| C1Rcomplement C1r | Nogle gange (5–29 %) | I 1 tilstand |
| C1Scomplement C1s | Nogle gange (5–29 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Nogle gange (5–29 %) | I 2 tilstande |
| CILK1ciliogenesis associated kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CLDN19claudin 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL5A1collagen type V alpha 1 chain | Nogle gange (5–29 %) | I 2 tilstande |
| COL5A2collagen type V alpha 2 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COLEC10collectin subfamily member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| COLEC11collectin subfamily member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| CSNK2A1casein kinase 2 alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DGCR2DiGeorge syndrome critical region gene 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DLL3delta like canonical Notch ligand 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Nogle gange (5–29 %) | I 2 tilstande |
| DNMT3BDNA methyltransferase 3 beta | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ESS2ess-2 spliceosome associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Nogle gange (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Nogle gange (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Nogle gange (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Nogle gange (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Nogle gange (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Nogle gange (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Nogle gange (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Nogle gange (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Nogle gange (5–29 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Nogle gange (5–29 %) | I 2 tilstande |
| GJA1gap junction protein alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Nogle gange (5–29 %) | I 3 tilstande |
| GLIS3GLIS family zinc finger 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GZF1GDNF inducible zinc finger protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Nogle gange (5–29 %) | I 1 tilstand |
| HELLShelicase, lymphoid specific | Nogle gange (5–29 %) | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Nogle gange (5–29 %) | I 2 tilstande |
| IGF2insulin like growth factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Nogle gange (5–29 %) | I 1 tilstand |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD1leiomodin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Nogle gange (5–29 %) | I 3 tilstande |
| MED13Lmediator complex subunit 13L | Nogle gange (5–29 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Nogle gange (5–29 %) | I 2 tilstande |
| MESP2mesoderm posterior bHLH transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MID1midline 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MLXIPLMLX interacting protein like | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MYH11myosin heavy chain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| MYLKmyosin light chain kinase | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| OCLNoccludin | Nogle gange (5–29 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Nogle gange (5–29 %) | I 2 tilstande |
| PACS1phosphofurin acidic cluster sorting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Nogle gange (5–29 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Nogle gange (5–29 %) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Nogle gange (5–29 %) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM5PR/SET domain 5 | Nogle gange (5–29 %) | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Nogle gange (5–29 %) | I 2 tilstande |
| RAC1Rac family small GTPase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| RAD51RAD51 recombinase | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Nogle gange (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Nogle gange (5–29 %) | I 1 tilstand |
| RIPPLY2ripply transcriptional repressor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Nogle gange (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Nogle gange (5–29 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SNIP1Smad nuclear interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX6SRY-box transcription factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 3 tilstande |
| TBX6T-box transcription factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TENT5Aterminal nucleotidyltransferase 5A | Nogle gange (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBBtubulin beta class I | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Nogle gange (5–29 %) | I 1 tilstand |
| ZBTB7Azinc finger and BTB domain containing 7A | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Sjældent (1–4%) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjældent (1–4%) | I 1 tilstand |
| ARXaristaless related homeobox | Sjældent (1–4%) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sjældent (1–4%) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Sjældent (1–4%) | I 1 tilstand |
| CDH11cadherin 11 | Sjældent (1–4%) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Sjældent (1–4%) | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Sjældent (1–4%) | I 1 tilstand |
| DMXL2Dmx like 2 | Sjældent (1–4%) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sjældent (1–4%) | I 2 tilstande |
| GNAO1G protein subunit alpha o1 | Sjældent (1–4%) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Sjældent (1–4%) | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Sjældent (1–4%) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sjældent (1–4%) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Sjældent (1–4%) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Sjældent (1–4%) | I 1 tilstand |
| MSX1msh homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Sjældent (1–4%) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Sjældent (1–4%) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sjældent (1–4%) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sjældent (1–4%) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Sjældent (1–4%) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Sjældent (1–4%) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Sjældent (1–4%) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Sjældent (1–4%) | I 1 tilstand |
| TAF11TATA-box binding protein associated factor 11 | Sjældent (1–4%) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Sjældent (1–4%) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Sjældent (1–4%) | I 1 tilstand |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Ikke registreret | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registreret | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ikke registreret | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registreret | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registreret | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Ikke registreret | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Ikke registreret | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ikke registreret | I 1 tilstand |
| EFNB1ephrin B1 | Ikke registreret | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Ikke registreret | I 1 tilstand |
| FBLN5fibulin 5 | Ikke registreret | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Ikke registreret | I 1 tilstand |
| GPC6glypican 6 | Ikke registreret | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registreret | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ikke registreret | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ikke registreret | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Ikke registreret | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Ikke registreret | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Ikke registreret | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Ikke registreret | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger