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Kenmerk
Funnel chest
Klinische naam: Pectus excavatum
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Samenvatting
- Lichaamssysteem
- Abnormality of the musculoskeletal system
Voor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagAan de slagvanaf $ 449
Funnel chestHP:0000767
Voor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagAan de slagvanaf $ 449
Read the genes linked to Funnel chest, and the rest of your genome, with one test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen346 genen gekoppeld aan Funnel chest
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Funnel chest 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 |
|---|---|---|
| ALPK3alpha kinase 3 | Altijd | In 1 aandoening |
| ATXN7L3ataxin 7 like 3 | Altijd | In 1 aandoening |
| BCORBCL6 corepressor | Altijd | In 1 aandoening |
| BNIP1BCL2 interacting protein 1 | Altijd | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altijd | In 5 aandoeningen |
| CILK1ciliogenesis associated kinase 1 | Altijd | In 1 aandoening |
| CIROZciliated left-right organizer protein containing ZP-N domains | Altijd | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Altijd | In 3 aandoeningen |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altijd | In 1 aandoening |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Altijd | In 1 aandoening |
| ESAMendothelial cell adhesion molecule | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| FILIP1filamin A interacting protein 1 | Altijd | In 1 aandoening |
| FLNAfilamin A | Altijd | In 4 aandoeningen |
| GINS3GINS complex subunit 3 | Altijd | In 1 aandoening |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Altijd | In 1 aandoening |
| GUSBglucuronidase beta | Altijd | In 1 aandoening |
| IGBP1immunoglobulin binding protein 1 | Altijd | In 2 aandoeningen |
| ITCHitchy E3 ubiquitin protein ligase | Altijd | In 1 aandoening |
| KDM2Blysine demethylase 2B | Altijd | In 1 aandoening |
| KDM5Clysine demethylase 5C | Altijd | In 1 aandoening |
| KIF7kinesin family member 7 | Altijd | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Altijd | In 4 aandoeningen |
| MAP2K1mitogen-activated protein kinase kinase 1 | Altijd | In 3 aandoeningen |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altijd | In 3 aandoeningen |
| MAU2MAU2 sister chromatid cohesion factor | Altijd | In 2 aandoeningen |
| MYOD1myogenic differentiation 1 | Altijd | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Altijd | In 2 aandoeningen |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altijd | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altijd | In 1 aandoening |
| PUM1pumilio RNA binding family member 1 | Altijd | In 1 aandoening |
| RAB5IFRAB5 interacting factor | Altijd | In 1 aandoening |
| RMP64ribonuclease MRP subunit p64 | Altijd | In 1 aandoening |
| SEC24DSEC24 homolog D, COPII component | Altijd | In 1 aandoening |
| SIK3SIK family kinase 3 | Altijd | In 1 aandoening |
| SLC37A4solute carrier family 37 member 4 | Altijd | In 1 aandoening |
| SMSspermine synthase | Altijd | In 2 aandoeningen |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Altijd | In 2 aandoeningen |
| SPRED2sprouty related EVH1 domain containing 2 | Altijd | In 2 aandoeningen |
| TBCBtubulin folding cofactor B | Altijd | In 1 aandoening |
Toon nog 306 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| TBCKTBC1 domain containing kinase | Altijd | In 2 aandoeningen |
| TGFBR1transforming growth factor beta receptor 1 | Altijd | In 2 aandoeningen |
| WDR19WD repeat domain 19 | Altijd | In 2 aandoeningen |
| WDR35WD repeat domain 35 | Altijd | In 2 aandoeningen |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP7AATPase copper transporting alpha | Heel vaak (80–99%) | In 3 aandoeningen |
| CBLCbl proto-oncogene | Heel vaak (80–99%) | In 2 aandoeningen |
| CDH11cadherin 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| CHRNGcholinergic receptor nicotinic gamma subunit | Heel vaak (80–99%) | In 1 aandoening |
| EMDemerin | Heel vaak (80–99%) | In 2 aandoeningen |
| FHL1four and a half LIM domains 1 | Heel vaak (80–99%) | In 1 aandoening |
| LMNAlamin A/C | Heel vaak (80–99%) | In 2 aandoeningen |
| LZTR1leucine zipper like post translational regulator 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| MRASmuscle RAS oncogene homolog | Heel vaak (80–99%) | In 2 aandoeningen |
| MYH3myosin heavy chain 3 | Heel vaak (80–99%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 2 aandoeningen |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Heel vaak (80–99%) | In 5 aandoeningen |
| PTCH1patched 1 | Heel vaak (80–99%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Heel vaak (80–99%) | In 3 aandoeningen |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| RASA2RAS p21 protein activator 2 | Heel vaak (80–99%) | In 1 aandoening |
| RIT1Ras like without CAAX 1 | Heel vaak (80–99%) | In 1 aandoening |
| RPS6KA3ribosomal protein S6 kinase A3 | Heel vaak (80–99%) | In 3 aandoeningen |
| RRASRAS related | Heel vaak (80–99%) | In 1 aandoening |
| RRAS2RAS related 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| TGFBR2transforming growth factor beta receptor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| TMCO1transmembrane and coiled-coil domains 1 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM43transmembrane protein 43 | Heel vaak (80–99%) | In 1 aandoening |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| ACTBactin beta | Vaak (30–79%) | In 2 aandoeningen |
| AHDC1AT-hook DNA binding motif containing 1 | Vaak (30–79%) | In 1 aandoening |
| ANAPC7anaphase promoting complex subunit 7 | Vaak (30–79%) | In 1 aandoening |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Vaak (30–79%) | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Vaak (30–79%) | In 1 aandoening |
| CBScystathionine beta-synthase | Vaak (30–79%) | In 2 aandoeningen |
| CD96CD96 molecule | Vaak (30–79%) | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Vaak (30–79%) | In 1 aandoening |
| COL1A2collagen type I alpha 2 chain | Vaak (30–79%) | In 2 aandoeningen |
| COL5A1collagen type V alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | 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 |
| DNMT3BDNA methyltransferase 3 beta | Vaak (30–79%) | In 1 aandoening |
| DUX4double homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Vaak (30–79%) | In 1 aandoening |
| DVL1dishevelled segment polarity protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| DVL3dishevelled segment polarity protein 3 | Vaak (30–79%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Vaak (30–79%) | In 3 aandoeningen |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Vaak (30–79%) | In 1 aandoening |
| ERFETS2 repressor factor | Vaak (30–79%) | In 1 aandoening |
| ERI1exoribonuclease 1 | Vaak (30–79%) | In 1 aandoening |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Vaak (30–79%) | In 1 aandoening |
| FBN1fibrillin 1 | Vaak (30–79%) | In 4 aandoeningen |
| FKTNfukutin | Vaak (30–79%) | In 2 aandoeningen |
| FRG1FSHD region gene 1 | Vaak (30–79%) | In 1 aandoening |
| FZD2frizzled class receptor 2 | Vaak (30–79%) | In 1 aandoening |
| GPC3glypican 3 | Vaak (30–79%) | In 2 aandoeningen |
| GPC4glypican 4 | Vaak (30–79%) | In 1 aandoening |
| HES7hes family bHLH transcription factor 7 | Vaak (30–79%) | In 1 aandoening |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Vaak (30–79%) | In 1 aandoening |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Vaak (30–79%) | In 1 aandoening |
| HYAL2hyaluronidase 2 | Vaak (30–79%) | In 1 aandoening |
| IFT122intraflagellar transport 122 | Vaak (30–79%) | In 2 aandoeningen |
| IFT140intraflagellar transport 140 | Vaak (30–79%) | In 1 aandoening |
| IFT43intraflagellar transport 43 | Vaak (30–79%) | In 1 aandoening |
| IFT52intraflagellar transport 52 | Vaak (30–79%) | In 1 aandoening |
| IGF1Rinsulin like growth factor 1 receptor | Vaak (30–79%) | In 2 aandoeningen |
| INTS1integrator complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| IPO8importin 8 | Vaak (30–79%) | In 2 aandoeningen |
| IRX5iroquois homeobox 5 | Vaak (30–79%) | In 1 aandoening |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Vaak (30–79%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Vaak (30–79%) | In 2 aandoeningen |
| MEG3maternally expressed 3 | Vaak (30–79%) | In 2 aandoeningen |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Vaak (30–79%) | In 2 aandoeningen |
| NF1neurofibromin 1 | Vaak (30–79%) | In 3 aandoeningen |
| NFIXnuclear factor I X | Vaak (30–79%) | In 3 aandoeningen |
| NOTCH3notch receptor 3 | Vaak (30–79%) | In 2 aandoeningen |
| NXNnucleoredoxin | Vaak (30–79%) | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Vaak (30–79%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Vaak (30–79%) | In 2 aandoeningen |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Vaak (30–79%) | In 2 aandoeningen |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Vaak (30–79%) | In 2 aandoeningen |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Vaak (30–79%) | In 2 aandoeningen |
| PRR12proline rich 12 | Vaak (30–79%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Vaak (30–79%) | In 3 aandoeningen |
| PYCR1pyrroline-5-carboxylate reductase 1 | Vaak (30–79%) | In 1 aandoening |
| RIN2Ras and Rab interactor 2 | Vaak (30–79%) | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | 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 |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Vaak (30–79%) | In 2 aandoeningen |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Vaak (30–79%) | In 2 aandoeningen |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Vaak (30–79%) | In 1 aandoening |
| SKISKI proto-oncogene | Vaak (30–79%) | In 2 aandoeningen |
| SLC16A2solute carrier family 16 member 2 | Vaak (30–79%) | In 2 aandoeningen |
| SLC9A6solute carrier family 9 member A6 | Vaak (30–79%) | In 1 aandoening |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| TBX5T-box transcription factor 5 | Vaak (30–79%) | In 2 aandoeningen |
| TRIP4thyroid hormone receptor interactor 4 | Vaak (30–79%) | In 2 aandoeningen |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Vaak (30–79%) | In 2 aandoeningen |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Vaak (30–79%) | In 1 aandoening |
| WNT5AWnt family member 5A | Vaak (30–79%) | In 2 aandoeningen |
| ZBTB20zinc finger and BTB domain containing 20 | Vaak (30–79%) | In 2 aandoeningen |
| ZDHHC9zDHHC palmitoyltransferase 9 | Vaak (30–79%) | In 1 aandoening |
| ACTA1actin alpha 1, skeletal muscle | Soms (5–29%) | In 2 aandoeningen |
| ADGRG1adhesion G protein-coupled receptor G1 | Soms (5–29%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Soms (5–29%) | In 1 aandoening |
| AEBP1AE binding protein 1 | Soms (5–29%) | In 1 aandoening |
| ASPHaspartate beta-hydroxylase | Soms (5–29%) | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Soms (5–29%) | In 1 aandoening |
| ATG7autophagy related 7 | Soms (5–29%) | In 1 aandoening |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Soms (5–29%) | In 1 aandoening |
| B3GALT6beta-1,3-galactosyltransferase 6 | Soms (5–29%) | In 2 aandoeningen |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Soms (5–29%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Soms (5–29%) | In 1 aandoening |
| BCORL1BCL6 corepressor like 1 | Soms (5–29%) | In 1 aandoening |
| BICD2BICD cargo adaptor 2 | Soms (5–29%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Soms (5–29%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Soms (5–29%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Soms (5–29%) | In 1 aandoening |
| CA2carbonic anhydrase 2 | Soms (5–29%) | In 1 aandoening |
| CDC42BPBCDC42 binding protein kinase beta | Soms (5–29%) | In 1 aandoening |
| CFL2cofilin 2 | Soms (5–29%) | In 1 aandoening |
| CHRM3cholinergic receptor muscarinic 3 | Soms (5–29%) | In 2 aandoeningen |
| CHST11carbohydrate sulfotransferase 11 | Soms (5–29%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Soms (5–29%) | In 1 aandoening |
| COL11A2collagen type XI alpha 2 chain | Soms (5–29%) | In 1 aandoening |
| COL12A1collagen type XII alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL3A1collagen type III alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| CRELD1CRELD disulfide isomerase 1 | Soms (5–29%) | In 1 aandoening |
| CUX1cut like homeobox 1 | Soms (5–29%) | In 1 aandoening |
| DDR2discoidin domain receptor tyrosine kinase 2 | Soms (5–29%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Soms (5–29%) | In 1 aandoening |
| DPF2double PHD fingers 2 | Soms (5–29%) | In 1 aandoening |
| EFNB1ephrin B1 | Soms (5–29%) | In 2 aandoeningen |
| EHMT1euchromatic histone lysine methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Soms (5–29%) | In 1 aandoening |
| ELNelastin | Soms (5–29%) | In 2 aandoeningen |
| EPG5ectopic P-granules 5 autophagy tethering factor | Soms (5–29%) | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Soms (5–29%) | In 1 aandoening |
| FAM20CFAM20C golgi associated secretory pathway kinase | Soms (5–29%) | In 1 aandoening |
| FBN2fibrillin 2 | Soms (5–29%) | In 1 aandoening |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Soms (5–29%) | In 2 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Soms (5–29%) | In 1 aandoening |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Soms (5–29%) | In 1 aandoening |
| GDF11growth differentiation factor 11 | Soms (5–29%) | In 1 aandoening |
| GNB1G protein subunit beta 1 | Soms (5–29%) | In 2 aandoeningen |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | 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 |
| GTPBP2GTP binding protein 2 | Soms (5–29%) | In 1 aandoening |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Soms (5–29%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Soms (5–29%) | In 1 aandoening |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Soms (5–29%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Soms (5–29%) | In 1 aandoening |
| IHHIndian hedgehog signaling molecule | Soms (5–29%) | In 2 aandoeningen |
| INPPL1inositol polyphosphate phosphatase like 1 | Soms (5–29%) | In 1 aandoening |
| ITGA7integrin subunit alpha 7 | Soms (5–29%) | In 1 aandoening |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Soms (5–29%) | In 1 aandoening |
| KDM5Alysine demethylase 5A | Soms (5–29%) | In 1 aandoening |
| KLHL20kelch like family member 20 | Soms (5–29%) | In 1 aandoening |
| KLHL41kelch like family member 41 | Soms (5–29%) | In 1 aandoening |
| KMT2Alysine methyltransferase 2A | Soms (5–29%) | In 1 aandoening |
| LEF1lymphoid enhancer binding factor 1 | Soms (5–29%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Soms (5–29%) | In 1 aandoening |
| LMBRD2LMBR1 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| LMOD3leiomodin 3 | Soms (5–29%) | In 1 aandoening |
| LMX1BLIM homeobox transcription factor 1 beta | Soms (5–29%) | In 2 aandoeningen |
| LOXlysyl oxidase | Soms (5–29%) | In 1 aandoening |
| LRP4LDL receptor related protein 4 | Soms (5–29%) | In 1 aandoening |
| LTBP1latent transforming growth factor beta binding protein 1 | Soms (5–29%) | In 1 aandoening |
| LTBP2latent transforming growth factor beta binding protein 2 | Soms (5–29%) | In 1 aandoening |
| MAFMAF bZIP transcription factor | Soms (5–29%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Soms (5–29%) | In 1 aandoening |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Soms (5–29%) | In 1 aandoening |
| MAPRE2microtubule associated protein RP/EB family member 2 | Soms (5–29%) | In 1 aandoening |
| MATN3matrilin 3 | Soms (5–29%) | In 2 aandoeningen |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Soms (5–29%) | In 1 aandoening |
| MEGF8multiple EGF like domains 8 | Soms (5–29%) | In 1 aandoening |
| METMET proto-oncogene, receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Soms (5–29%) | In 1 aandoening |
| MFAP5microfibril associated protein 5 | Soms (5–29%) | In 1 aandoening |
| MLXIPLMLX interacting protein like | Soms (5–29%) | In 1 aandoening |
| MSL2MSL complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| MTX2metaxin 2 | Soms (5–29%) | In 1 aandoening |
| MYL2myosin light chain 2 | Soms (5–29%) | In 1 aandoening |
| MYPNmyopalladin | Soms (5–29%) | In 2 aandoeningen |
| NARS1asparaginyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Soms (5–29%) | In 1 aandoening |
| NEBnebulin | Soms (5–29%) | In 1 aandoening |
| NEK1NIMA related kinase 1 | Soms (5–29%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Soms (5–29%) | In 1 aandoening |
| NKAPNFKB activating protein | Soms (5–29%) | In 1 aandoening |
| NPR3natriuretic peptide receptor 3 | Soms (5–29%) | In 1 aandoening |
| NUP107nucleoporin 107 | Soms (5–29%) | In 1 aandoening |
| PACS1phosphofurin acidic cluster sorting protein 1 | Soms (5–29%) | In 1 aandoening |
| PCGF2polycomb group ring finger 2 | Soms (5–29%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Soms (5–29%) | In 1 aandoening |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Soms (5–29%) | In 1 aandoening |
| PI4KAphosphatidylinositol 4-kinase alpha | Soms (5–29%) | In 1 aandoening |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Soms (5–29%) | In 1 aandoening |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Soms (5–29%) | In 1 aandoening |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Soms (5–29%) | In 1 aandoening |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Soms (5–29%) | In 1 aandoening |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Soms (5–29%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Soms (5–29%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Soms (5–29%) | In 3 aandoeningen |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Soms (5–29%) | In 1 aandoening |
| PLXND1plexin D1 | Soms (5–29%) | In 1 aandoening |
| POLR2ARNA polymerase II subunit A | Soms (5–29%) | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Soms (5–29%) | In 2 aandoeningen |
| PQBP1polyglutamine binding protein 1 | Soms (5–29%) | In 1 aandoening |
| PROKR2prokineticin receptor 2 | Soms (5–29%) | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Soms (5–29%) | In 1 aandoening |
| PUF60poly(U) binding splicing factor 60 | Soms (5–29%) | In 2 aandoeningen |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Soms (5–29%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| RBM10RNA binding motif protein 10 | Soms (5–29%) | In 2 aandoeningen |
| RELREL proto-oncogene, NF-kB subunit | Soms (5–29%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Soms (5–29%) | In 1 aandoening |
| RPL17ribosomal protein L17 | Soms (5–29%) | In 1 aandoening |
| SCAF4SR-related CTD associated factor 4 | Soms (5–29%) | In 1 aandoening |
| SELENONselenoprotein N | Soms (5–29%) | In 1 aandoening |
| SLC2A10solute carrier family 2 member 10 | Soms (5–29%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Soms (5–29%) | In 1 aandoening |
| SMAD3SMAD family member 3 | Soms (5–29%) | In 2 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Soms (5–29%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Soms (5–29%) | In 1 aandoening |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Soms (5–29%) | In 1 aandoening |
| SPRED1sprouty related EVH1 domain containing 1 | Soms (5–29%) | In 1 aandoening |
| SRPX2sushi repeat containing protein X-linked 2 | Soms (5–29%) | In 1 aandoening |
| SRYsex determining region Y | Soms (5–29%) | In 1 aandoening |
| STX1Asyntaxin 1A | Soms (5–29%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Soms (5–29%) | In 1 aandoening |
| TBL2transducin beta like 2 | Soms (5–29%) | In 1 aandoening |
| TELO2telomere maintenance 2 | Soms (5–29%) | In 1 aandoening |
| TGDSTDP-glucose 4,6-dehydratase | Soms (5–29%) | In 2 aandoeningen |
| TGFB2transforming growth factor beta 2 | Soms (5–29%) | In 1 aandoening |
| TGFB3transforming growth factor beta 3 | Soms (5–29%) | In 2 aandoeningen |
| THSD4thrombospondin type 1 domain containing 4 | Soms (5–29%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Soms (5–29%) | In 1 aandoening |
| TMEM94transmembrane protein 94 | Soms (5–29%) | In 1 aandoening |
| TPM2tropomyosin 2 | Soms (5–29%) | In 3 aandoeningen |
| TPM3tropomyosin 3 | Soms (5–29%) | In 3 aandoeningen |
| TRIOtrio Rho guanine nucleotide exchange factor | Soms (5–29%) | In 2 aandoeningen |
| TRMT10AtRNA methyltransferase 10A | Soms (5–29%) | In 1 aandoening |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Soms (5–29%) | In 1 aandoening |
| TUBBtubulin beta class I | Soms (5–29%) | In 1 aandoening |
| VPS13Bvacuolar protein sorting 13 homolog B | Soms (5–29%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Soms (5–29%) | In 1 aandoening |
| WBP11WW domain binding protein 11 | Soms (5–29%) | In 1 aandoening |
| WDR11WD repeat domain 11 | Soms (5–29%) | In 1 aandoening |
| XPO1exportin 1 | Soms (5–29%) | In 1 aandoening |
| XYLT1xylosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Soms (5–29%) | In 3 aandoeningen |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| ZMIZ1zinc finger MIZ-type containing 1 | Soms (5–29%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zelden (1–4%) | In 1 aandoening |
| APC2APC regulator of Wnt signaling pathway 2 | Zelden (1–4%) | In 1 aandoening |
| CCDC47coiled-coil domain containing 47 | Zelden (1–4%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Zelden (1–4%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Zelden (1–4%) | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Zelden (1–4%) | In 1 aandoening |
| GJA8gap junction protein alpha 8 | Zelden (1–4%) | In 1 aandoening |
| KDM6Blysine demethylase 6B | Zelden (1–4%) | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Zelden (1–4%) | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Zelden (1–4%) | In 1 aandoening |
| TBCDtubulin folding cofactor D | Zelden (1–4%) | In 1 aandoening |
| ADAMTSL2ADAMTS like 2 | Niet vastgelegd | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Niet vastgelegd | In 1 aandoening |
| AMER1APC membrane recruitment protein 1 | Niet vastgelegd | In 1 aandoening |
| B3GLCTbeta 3-glucosyltransferase | Niet vastgelegd | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Niet vastgelegd | In 1 aandoening |
| CCBE1collagen and calcium binding EGF domains 1 | Niet vastgelegd | In 1 aandoening |
| COG4component of oligomeric golgi complex 4 | Niet vastgelegd | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Niet vastgelegd | In 1 aandoening |
| CRTAPcartilage associated protein | Niet vastgelegd | In 1 aandoening |
| CUL7cullin 7 | Niet vastgelegd | In 1 aandoening |
| DHODHdihydroorotate dehydrogenase (quinone) | Niet vastgelegd | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Niet vastgelegd | In 1 aandoening |
| FBLN5fibulin 5 | Niet vastgelegd | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Niet vastgelegd | In 1 aandoening |
| FLNBfilamin B | Niet vastgelegd | In 1 aandoening |
| FMR1fragile X messenger ribonucleoprotein 1 | Niet vastgelegd | In 1 aandoening |
| HPGD15-hydroxyprostaglandin dehydrogenase | Niet vastgelegd | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Niet vastgelegd | In 1 aandoening |
| MEGF10multiple EGF like domains 10 | Niet vastgelegd | In 1 aandoening |
| MYF5myogenic factor 5 | Niet vastgelegd | In 1 aandoening |
| NOGnoggin | Niet vastgelegd | In 1 aandoening |
| PDHXpyruvate dehydrogenase complex component X | Niet vastgelegd | In 1 aandoening |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Niet vastgelegd | In 1 aandoening |
| PPIBpeptidylprolyl isomerase B | Niet vastgelegd | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Niet vastgelegd | In 1 aandoening |
| RETret proto-oncogene | Niet vastgelegd | In 1 aandoening |
| SCARF2scavenger receptor class F member 2 | Niet vastgelegd | In 1 aandoening |
| SH3PXD2BSH3 and PX domains 2B | Niet vastgelegd | In 1 aandoening |
| SOX10SRY-box transcription factor 10 | Niet vastgelegd | In 1 aandoening |
| SPRTNSprT-like N-terminal domain | Niet vastgelegd | In 1 aandoening |
| TCTN3tectonic family member 3 | 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.
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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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