Kenmerk
Umbilical hernia
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Samenvatting
- Ook bekend als
- Umbilical hernias
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Umbilical hernia voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Altijd | In 2 aandoeningen |
| AMOTL1angiomotin like 1 | Altijd | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Altijd | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Altijd | In 2 aandoeningen |
| BCL11BBCL11 transcription factor B | Altijd | In 1 aandoening |
| BMP1bone morphogenetic protein 1 | Altijd | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Altijd | In 1 aandoening |
| EEDembryonic ectoderm development | Altijd | In 1 aandoening |
| EN1engrailed homeobox 1 | Altijd | In 1 aandoening |
| FBN1fibrillin 1 | Altijd | In 2 aandoeningen |
| FBXL4F-box and leucine rich repeat protein 4 | Altijd | In 1 aandoening |
| FLNAfilamin A | Altijd | In 2 aandoeningen |
| GUSBglucuronidase beta | Altijd | In 2 aandoeningen |
| IDUAalpha-L-iduronidase | Altijd | In 2 aandoeningen |
| IFT140intraflagellar transport 140 | Altijd | In 1 aandoening |
| KDM2Blysine demethylase 2B | Altijd | In 1 aandoening |
| LBRlamin B receptor | Altijd | In 1 aandoening |
| MTORmechanistic target of rapamycin kinase | Altijd | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Altijd | In 2 aandoeningen |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altijd | In 1 aandoening |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Altijd | In 1 aandoening |
| PRKG2protein kinase cGMP-dependent 2 | Altijd | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Altijd | In 1 aandoening |
| SLC35D1solute carrier family 35 member D1 | Altijd | In 1 aandoening |
| UNC13Aunc-13 homolog A | Altijd | In 1 aandoening |
| ADAMTSL2ADAMTS like 2 | Heel vaak (80–99%) | In 1 aandoening |
| AGAaspartylglucosaminidase | Heel vaak (80–99%) | In 1 aandoening |
| ARSBarylsulfatase B | Heel vaak (80–99%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Heel vaak (80–99%) | In 1 aandoening |
| ELMO2engulfment and cell motility 2 | Heel vaak (80–99%) | In 1 aandoening |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Heel vaak (80–99%) | In 3 aandoeningen |
| HYMAIhydatidiform mole associated and imprinted | Heel vaak (80–99%) | In 2 aandoeningen |
| ISL1ISL LIM homeobox 1 | Heel vaak (80–99%) | In 1 aandoening |
| NKX2-5NK2 homeobox 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| PAX8paired box 8 | Heel vaak (80–99%) | In 3 aandoeningen |
| PLAGL1PLAG1 like zinc finger 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Heel vaak (80–99%) | In 1 aandoening |
| PTCH1patched 1 | Heel vaak (80–99%) | In 1 aandoening |
| SLC25A24solute carrier family 25 member 24 | Heel vaak (80–99%) | In 3 aandoeningen |
Toon nog 290 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| TP63tumor protein p63 | Heel vaak (80–99%) | In 2 aandoeningen |
| ABCC8ATP binding cassette subfamily C member 8 | Vaak (30–79%) | In 1 aandoening |
| ABCC9ATP binding cassette subfamily C member 9 | Vaak (30–79%) | In 2 aandoeningen |
| AEBP1AE binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| ANTXR1ANTXR cell adhesion molecule 1 | Vaak (30–79%) | In 2 aandoeningen |
| ATAD1ATPase family AAA domain containing 1 | Vaak (30–79%) | In 2 aandoeningen |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Vaak (30–79%) | In 1 aandoening |
| CHRNGcholinergic receptor nicotinic gamma subunit | Vaak (30–79%) | In 2 aandoeningen |
| COX11cytochrome c oxidase copper chaperone COX11 | Vaak (30–79%) | In 1 aandoening |
| DICER1dicer 1, ribonuclease III | Vaak (30–79%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Vaak (30–79%) | In 2 aandoeningen |
| DUOX2dual oxidase 2 | Vaak (30–79%) | In 2 aandoeningen |
| DUOXA2dual oxidase maturation factor 2 | Vaak (30–79%) | In 1 aandoening |
| DVL1dishevelled segment polarity protein 1 | Vaak (30–79%) | In 3 aandoeningen |
| DVL3dishevelled segment polarity protein 3 | Vaak (30–79%) | In 1 aandoening |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Vaak (30–79%) | In 1 aandoening |
| FKBP14FKBP prolyl isomerase 14 | Vaak (30–79%) | In 1 aandoening |
| FOCADfocadhesin | Vaak (30–79%) | In 1 aandoening |
| FOXE1forkhead box E1 | Vaak (30–79%) | In 1 aandoening |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Vaak (30–79%) | In 1 aandoening |
| FZD2frizzled class receptor 2 | Vaak (30–79%) | In 1 aandoening |
| GLRA1glycine receptor alpha 1 | Vaak (30–79%) | In 2 aandoeningen |
| GLRBglycine receptor beta | Vaak (30–79%) | In 1 aandoening |
| GPC3glypican 3 | Vaak (30–79%) | In 2 aandoeningen |
| GPC4glypican 4 | Vaak (30–79%) | In 1 aandoening |
| GPHNgephyrin | Vaak (30–79%) | In 2 aandoeningen |
| H4C3H4 clustered histone 3 | Vaak (30–79%) | In 1 aandoening |
| HDAC4histone deacetylase 4 | Vaak (30–79%) | In 1 aandoening |
| HESX1HESX homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| HIVEP2HIVEP zinc finger 2 | Vaak (30–79%) | In 1 aandoening |
| IPO8importin 8 | Vaak (30–79%) | In 1 aandoening |
| IYDiodotyrosine deiodinase | Vaak (30–79%) | In 1 aandoening |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Vaak (30–79%) | In 1 aandoening |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Vaak (30–79%) | In 1 aandoening |
| KIF7kinesin family member 7 | Vaak (30–79%) | In 1 aandoening |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Vaak (30–79%) | In 2 aandoeningen |
| LHX3LIM homeobox 3 | Vaak (30–79%) | In 1 aandoening |
| LHX4LIM homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| LRP2LDL receptor related protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| LTBP4latent transforming growth factor beta binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| MEG3maternally expressed 3 | Vaak (30–79%) | In 2 aandoeningen |
| MYH3myosin heavy chain 3 | Vaak (30–79%) | In 1 aandoening |
| NKX2-1NK2 homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| NOTCH3notch receptor 3 | Vaak (30–79%) | In 2 aandoeningen |
| NXNnucleoredoxin | Vaak (30–79%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Vaak (30–79%) | In 1 aandoening |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Vaak (30–79%) | In 2 aandoeningen |
| POLR3GLRNA polymerase III subunit GL | Vaak (30–79%) | In 1 aandoening |
| POU1F1POU class 1 homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| PPIBpeptidylprolyl isomerase B | Vaak (30–79%) | In 1 aandoening |
| PROP1PROP paired-like homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| PRR12proline rich 12 | Vaak (30–79%) | In 1 aandoening |
| RIN2Ras and Rab interactor 2 | Vaak (30–79%) | In 2 aandoeningen |
| RNF2ring finger protein 2 | Vaak (30–79%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| RTL1retrotransposon Gag like 1 | Vaak (30–79%) | In 2 aandoeningen |
| SEC31ASEC31 homolog A, COPII component | Vaak (30–79%) | In 1 aandoening |
| SGSHN-sulfoglucosamine sulfohydrolase | Vaak (30–79%) | In 1 aandoening |
| SKISKI proto-oncogene | Vaak (30–79%) | In 2 aandoeningen |
| SLC26A2solute carrier family 26 member 2 | Vaak (30–79%) | In 2 aandoeningen |
| SLC26A4solute carrier family 26 member 4 | Vaak (30–79%) | In 1 aandoening |
| SLC5A5solute carrier family 5 member 5 | Vaak (30–79%) | In 2 aandoeningen |
| SLC6A5solute carrier family 6 member 5 | Vaak (30–79%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Vaak (30–79%) | In 1 aandoening |
| SMAD3SMAD family member 3 | Vaak (30–79%) | In 2 aandoeningen |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Vaak (30–79%) | In 1 aandoening |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Vaak (30–79%) | In 1 aandoening |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Vaak (30–79%) | In 1 aandoening |
| TFE3transcription factor binding to IGHM enhancer 3 | Vaak (30–79%) | In 1 aandoening |
| TGthyroglobulin | Vaak (30–79%) | In 1 aandoening |
| TOR1Atorsin family 1 member A | Vaak (30–79%) | In 1 aandoening |
| TPOthyroid peroxidase | Vaak (30–79%) | In 1 aandoening |
| TRIP11thyroid hormone receptor interactor 11 | Vaak (30–79%) | In 1 aandoening |
| TSHBthyroid stimulating hormone subunit beta | Vaak (30–79%) | In 2 aandoeningen |
| TSHRthyroid stimulating hormone receptor | Vaak (30–79%) | In 2 aandoeningen |
| TWIST2twist family bHLH transcription factor 2 | Vaak (30–79%) | In 1 aandoening |
| WNT5AWnt family member 5A | Vaak (30–79%) | In 2 aandoeningen |
| ZFP57ZFP57 zinc finger protein | Vaak (30–79%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ACTBactin beta | Soms (5–29%) | In 1 aandoening |
| ACTG2actin gamma 2, smooth muscle | Soms (5–29%) | In 2 aandoeningen |
| ARVCFARVCF delta catenin family member | Soms (5–29%) | In 1 aandoening |
| AUTS2activator of transcription and developmental regulator AUTS2 | Soms (5–29%) | In 2 aandoeningen |
| B3GLCTbeta 3-glucosyltransferase | Soms (5–29%) | In 2 aandoeningen |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Soms (5–29%) | In 1 aandoening |
| BCORBCL6 corepressor | Soms (5–29%) | In 1 aandoening |
| BGNbiglycan | Soms (5–29%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRIP1BRCA1 interacting DNA helicase 1 | Soms (5–29%) | In 1 aandoening |
| BRPF1bromodomain and PHD finger containing 1 | Soms (5–29%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Soms (5–29%) | In 1 aandoening |
| C1Rcomplement C1r | Soms (5–29%) | In 1 aandoening |
| C1Scomplement C1s | Soms (5–29%) | In 1 aandoening |
| CAPRIN1cell cycle associated protein 1 | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CDCA7cell division cycle associated 7 | Soms (5–29%) | In 1 aandoening |
| CHD7chromodomain helicase DNA binding protein 7 | Soms (5–29%) | In 2 aandoeningen |
| CILK1ciliogenesis associated kinase 1 | Soms (5–29%) | In 1 aandoening |
| CLDN19claudin 19 | Soms (5–29%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Soms (5–29%) | In 1 aandoening |
| COL1A1collagen type I alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL3A1collagen type III alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL5A1collagen type V alpha 1 chain | Soms (5–29%) | In 2 aandoeningen |
| COL5A2collagen type V alpha 2 chain | Soms (5–29%) | In 1 aandoening |
| COLEC10collectin subfamily member 10 | Soms (5–29%) | In 1 aandoening |
| COLEC11collectin subfamily member 11 | Soms (5–29%) | In 1 aandoening |
| COMTcatechol-O-methyltransferase | Soms (5–29%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Soms (5–29%) | In 2 aandoeningen |
| CSNK2A1casein kinase 2 alpha 1 | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DGCR2DiGeorge syndrome critical region gene 2 | Soms (5–29%) | In 1 aandoening |
| DGCR6DiGeorge syndrome critical region gene 6 | Soms (5–29%) | In 1 aandoening |
| DGCR8DGCR8 microprocessor complex subunit | Soms (5–29%) | In 1 aandoening |
| DLL3delta like canonical Notch ligand 3 | Soms (5–29%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Soms (5–29%) | In 1 aandoening |
| DNMT3ADNA methyltransferase 3 alpha | Soms (5–29%) | In 2 aandoeningen |
| DNMT3BDNA methyltransferase 3 beta | Soms (5–29%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Soms (5–29%) | In 1 aandoening |
| ELNelastin | Soms (5–29%) | In 2 aandoeningen |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| ESS2ess-2 spliceosome associated protein | Soms (5–29%) | In 1 aandoening |
| FAAP100FA core complex associated protein 100 | Soms (5–29%) | In 1 aandoening |
| FANCAFA complementation group A | Soms (5–29%) | In 1 aandoening |
| FANCBFA complementation group B | Soms (5–29%) | In 1 aandoening |
| FANCCFA complementation group C | Soms (5–29%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 1 aandoening |
| FANCEFA complementation group E | Soms (5–29%) | In 1 aandoening |
| FANCFFA complementation group F | Soms (5–29%) | In 1 aandoening |
| FANCGFA complementation group G | Soms (5–29%) | In 1 aandoening |
| FANCIFA complementation group I | Soms (5–29%) | In 1 aandoening |
| FANCLFA complementation group L | Soms (5–29%) | In 1 aandoening |
| FANCMFA complementation group M | Soms (5–29%) | In 1 aandoening |
| FBXW11F-box and WD repeat domain containing 11 | Soms (5–29%) | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Soms (5–29%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Soms (5–29%) | In 1 aandoening |
| FRAS1Fraser extracellular matrix complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| FREM2FRAS1 related extracellular matrix 2 | Soms (5–29%) | In 1 aandoening |
| GATA6GATA binding protein 6 | Soms (5–29%) | In 2 aandoeningen |
| GJA1gap junction protein alpha 1 | Soms (5–29%) | In 1 aandoening |
| GLI3GLI family zinc finger 3 | Soms (5–29%) | In 3 aandoeningen |
| GLIS3GLIS family zinc finger 3 | Soms (5–29%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Soms (5–29%) | In 1 aandoening |
| GRIP1glutamate receptor interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Soms (5–29%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Soms (5–29%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Soms (5–29%) | In 1 aandoening |
| GZF1GDNF inducible zinc finger protein 1 | Soms (5–29%) | In 1 aandoening |
| H19H19 imprinted maternally expressed transcript | Soms (5–29%) | In 1 aandoening |
| HELLShelicase, lymphoid specific | Soms (5–29%) | In 1 aandoening |
| HES7hes family bHLH transcription factor 7 | Soms (5–29%) | In 1 aandoening |
| HIRAhistone cell cycle regulator | Soms (5–29%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Soms (5–29%) | In 2 aandoeningen |
| IGF2insulin like growth factor 2 | Soms (5–29%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Soms (5–29%) | In 1 aandoening |
| KDM3Blysine demethylase 3B | Soms (5–29%) | In 1 aandoening |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Soms (5–29%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Soms (5–29%) | In 1 aandoening |
| LMOD1leiomodin 1 | Soms (5–29%) | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Soms (5–29%) | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Soms (5–29%) | In 1 aandoening |
| MAPRE2microtubule associated protein RP/EB family member 2 | Soms (5–29%) | In 1 aandoening |
| MASP1MBL associated serine protease 1 | Soms (5–29%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Soms (5–29%) | In 3 aandoeningen |
| MED13Lmediator complex subunit 13L | Soms (5–29%) | In 1 aandoening |
| MEGF8multiple EGF like domains 8 | Soms (5–29%) | In 2 aandoeningen |
| MESP2mesoderm posterior bHLH transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Soms (5–29%) | In 1 aandoening |
| MID1midline 1 | Soms (5–29%) | In 2 aandoeningen |
| MLXIPLMLX interacting protein like | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MYH11myosin heavy chain 11 | Soms (5–29%) | In 1 aandoening |
| MYLKmyosin light chain kinase | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NALCNsodium leak channel, non-selective | Soms (5–29%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Soms (5–29%) | In 1 aandoening |
| NEU1neuraminidase 1 | Soms (5–29%) | In 2 aandoeningen |
| NFIXnuclear factor I X | Soms (5–29%) | In 1 aandoening |
| NOTCH1notch receptor 1 | Soms (5–29%) | In 1 aandoening |
| NOTCH2notch receptor 2 | Soms (5–29%) | In 2 aandoeningen |
| OCLNoccludin | Soms (5–29%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Soms (5–29%) | In 2 aandoeningen |
| PACS1phosphofurin acidic cluster sorting protein 1 | Soms (5–29%) | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Soms (5–29%) | In 1 aandoening |
| PHGDHphosphoglycerate dehydrogenase | Soms (5–29%) | In 1 aandoening |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Soms (5–29%) | In 1 aandoening |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Soms (5–29%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Soms (5–29%) | In 1 aandoening |
| PORCNporcupine O-acyltransferase | Soms (5–29%) | In 2 aandoeningen |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PRDM5PR/SET domain 5 | Soms (5–29%) | In 1 aandoening |
| RAB23RAB23, member RAS oncogene family | Soms (5–29%) | In 2 aandoeningen |
| RAC1Rac family small GTPase 1 | Soms (5–29%) | In 2 aandoeningen |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| RAP1BRAP1B, member of RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Soms (5–29%) | In 1 aandoening |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| RFX7regulatory factor X7 | Soms (5–29%) | In 1 aandoening |
| RIPPLY2ripply transcriptional repressor 2 | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RREB1ras responsive element binding protein 1 | Soms (5–29%) | In 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Soms (5–29%) | In 1 aandoening |
| SEMA3Esemaphorin 3E | Soms (5–29%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Soms (5–29%) | In 1 aandoening |
| SETD5SET domain containing 5 | Soms (5–29%) | In 1 aandoening |
| SH3PXD2BSH3 and PX domains 2B | Soms (5–29%) | In 1 aandoening |
| SLC35C1solute carrier family 35 member C1 | Soms (5–29%) | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 1 aandoening |
| SNIP1Smad nuclear interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| SOX6SRY-box transcription factor 6 | Soms (5–29%) | In 1 aandoening |
| SRCAPSnf2 related CREBBP activator protein | Soms (5–29%) | In 1 aandoening |
| STX1Asyntaxin 1A | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TBL2transducin beta like 2 | Soms (5–29%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Soms (5–29%) | In 3 aandoeningen |
| TBX6T-box transcription factor 6 | Soms (5–29%) | In 1 aandoening |
| TENT5Aterminal nucleotidyltransferase 5A | Soms (5–29%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Soms (5–29%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Soms (5–29%) | In 1 aandoening |
| TRAF7TNF receptor associated factor 7 | Soms (5–29%) | In 1 aandoening |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Soms (5–29%) | In 1 aandoening |
| TUBBtubulin beta class I | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Soms (5–29%) | In 1 aandoening |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Soms (5–29%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| ZBTB24zinc finger and BTB domain containing 24 | Soms (5–29%) | In 1 aandoening |
| ZBTB7Azinc finger and BTB domain containing 7A | Soms (5–29%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Zelden (1–4%) | In 1 aandoening |
| APC2APC regulator of Wnt signaling pathway 2 | Zelden (1–4%) | In 1 aandoening |
| ARXaristaless related homeobox | Zelden (1–4%) | In 1 aandoening |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Zelden (1–4%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Zelden (1–4%) | In 1 aandoening |
| CDH11cadherin 11 | Zelden (1–4%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Zelden (1–4%) | In 1 aandoening |
| CHD3chromodomain helicase DNA binding protein 3 | Zelden (1–4%) | In 1 aandoening |
| DMXL2Dmx like 2 | Zelden (1–4%) | In 1 aandoening |
| EHMT1euchromatic histone lysine methyltransferase 1 | Zelden (1–4%) | In 2 aandoeningen |
| GNAO1G protein subunit alpha o1 | Zelden (1–4%) | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Zelden (1–4%) | In 1 aandoening |
| GRM7glutamate metabotropic receptor 7 | Zelden (1–4%) | In 1 aandoening |
| IRF6interferon regulatory factor 6 | Zelden (1–4%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Zelden (1–4%) | In 1 aandoening |
| KMT2Clysine methyltransferase 2C | Zelden (1–4%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Zelden (1–4%) | In 1 aandoening |
| MSX1msh homeobox 1 | Zelden (1–4%) | In 1 aandoening |
| NECTIN1nectin cell adhesion molecule 1 | Zelden (1–4%) | In 1 aandoening |
| NEUROD2neuronal differentiation 2 | Zelden (1–4%) | In 1 aandoening |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Zelden (1–4%) | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Zelden (1–4%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Zelden (1–4%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Zelden (1–4%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Zelden (1–4%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Zelden (1–4%) | In 1 aandoening |
| SIK1salt inducible kinase 1 | Zelden (1–4%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Zelden (1–4%) | In 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Zelden (1–4%) | In 1 aandoening |
| TAF11TATA-box binding protein associated factor 11 | Zelden (1–4%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Zelden (1–4%) | In 1 aandoening |
| TRRAPtransformation/transcription domain associated protein | Zelden (1–4%) | In 1 aandoening |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Niet vastgelegd | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Niet vastgelegd | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Niet vastgelegd | In 1 aandoening |
| ATRXATRX chromatin remodeler | Niet vastgelegd | In 1 aandoening |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Niet vastgelegd | In 1 aandoening |
| CCBE1collagen and calcium binding EGF domains 1 | Niet vastgelegd | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Niet vastgelegd | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| EFNB1ephrin B1 | Niet vastgelegd | In 1 aandoening |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Niet vastgelegd | In 1 aandoening |
| FBLN5fibulin 5 | Niet vastgelegd | In 1 aandoening |
| GMNNgeminin DNA replication inhibitor | Niet vastgelegd | In 1 aandoening |
| GPC6glypican 6 | Niet vastgelegd | In 1 aandoening |
| IDSiduronate 2-sulfatase | Niet vastgelegd | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Niet vastgelegd | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Niet vastgelegd | In 1 aandoening |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Niet vastgelegd | In 1 aandoening |
| SALL1spalt like transcription factor 1 | Niet vastgelegd | In 1 aandoening |
| SLC2A10solute carrier family 2 member 10 | Niet vastgelegd | In 1 aandoening |
| TGDSTDP-glucose 4,6-dehydratase | Niet vastgelegd | In 1 aandoening |
| TMEM70transmembrane protein 70 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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