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Træk
Funnel chest
Klinisk navn: Pectus excavatum
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Resumé
- Kropssystem
- Abnormality of the musculoskeletal system
Funnel chestHP:0000767
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Read the genes linked to Funnel chest, and the rest of your genome, with one test.
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Bestil min Genome Test346 gener knyttet til Funnel chest
Ændringer i disse gener forårsager sjældne tilstande, hvor Funnel chest 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 |
|---|---|---|
| ALPK3alpha kinase 3 | Altid | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Altid | I 1 tilstand |
| BCORBCL6 corepressor | Altid | I 1 tilstand |
| BNIP1BCL2 interacting protein 1 | Altid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altid | I 5 tilstande |
| CILK1ciliogenesis associated kinase 1 | Altid | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Altid | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Altid | I 3 tilstande |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altid | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Altid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Altid | I 1 tilstand |
| FLNAfilamin A | Altid | I 4 tilstande |
| GINS3GINS complex subunit 3 | Altid | I 1 tilstand |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Altid | I 1 tilstand |
| GUSBglucuronidase beta | Altid | I 1 tilstand |
| IGBP1immunoglobulin binding protein 1 | Altid | I 2 tilstande |
| ITCHitchy E3 ubiquitin protein ligase | Altid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Altid | I 1 tilstand |
| KDM5Clysine demethylase 5C | Altid | I 1 tilstand |
| KIF7kinesin family member 7 | Altid | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Altid | I 4 tilstande |
| MAP2K1mitogen-activated protein kinase kinase 1 | Altid | I 3 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altid | I 3 tilstande |
| MAU2MAU2 sister chromatid cohesion factor | Altid | I 2 tilstande |
| MYOD1myogenic differentiation 1 | Altid | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Altid | I 2 tilstande |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altid | I 1 tilstand |
| PUM1pumilio RNA binding family member 1 | Altid | I 1 tilstand |
| RAB5IFRAB5 interacting factor | Altid | I 1 tilstand |
| RMP64ribonuclease MRP subunit p64 | Altid | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Altid | I 1 tilstand |
| SIK3SIK family kinase 3 | Altid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Altid | I 1 tilstand |
| SMSspermine synthase | Altid | I 2 tilstande |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Altid | I 2 tilstande |
| SPRED2sprouty related EVH1 domain containing 2 | Altid | I 2 tilstande |
| TBCBtubulin folding cofactor B | Altid | I 1 tilstand |
Vis 306 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| TBCKTBC1 domain containing kinase | Altid | I 2 tilstande |
| TGFBR1transforming growth factor beta receptor 1 | Altid | I 2 tilstande |
| WDR19WD repeat domain 19 | Altid | I 2 tilstande |
| WDR35WD repeat domain 35 | Altid | I 2 tilstande |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP7AATPase copper transporting alpha | Meget ofte (80–99 %) | I 3 tilstande |
| CBLCbl proto-oncogene | Meget ofte (80–99 %) | I 2 tilstande |
| CDH11cadherin 11 | Meget ofte (80–99 %) | I 2 tilstande |
| CHRNGcholinergic receptor nicotinic gamma subunit | Meget ofte (80–99 %) | I 1 tilstand |
| EMDemerin | Meget ofte (80–99 %) | I 2 tilstande |
| FHL1four and a half LIM domains 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LMNAlamin A/C | Meget ofte (80–99 %) | I 2 tilstande |
| LZTR1leucine zipper like post translational regulator 1 | Meget ofte (80–99 %) | I 3 tilstande |
| MRASmuscle RAS oncogene homolog | Meget ofte (80–99 %) | I 2 tilstande |
| MYH3myosin heavy chain 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Meget ofte (80–99 %) | I 5 tilstande |
| PTCH1patched 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Meget ofte (80–99 %) | I 3 tilstande |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| RASA2RAS p21 protein activator 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Meget ofte (80–99 %) | I 3 tilstande |
| RRASRAS related | Meget ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| TMCO1transmembrane and coiled-coil domains 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM43transmembrane protein 43 | Meget ofte (80–99 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| ACTBactin beta | Ofte (30–79 %) | I 2 tilstande |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ANAPC7anaphase promoting complex subunit 7 | Ofte (30–79 %) | I 1 tilstand |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Ofte (30–79 %) | I 2 tilstande |
| CD96CD96 molecule | Ofte (30–79 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Ofte (30–79 %) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ofte (30–79 %) | I 2 tilstande |
| COL5A1collagen type V alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | 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 |
| DNMT3BDNA methyltransferase 3 beta | Ofte (30–79 %) | I 1 tilstand |
| DUX4double homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Ofte (30–79 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 2 tilstande |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 3 tilstande |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Ofte (30–79 %) | I 1 tilstand |
| ERFETS2 repressor factor | Ofte (30–79 %) | I 1 tilstand |
| ERI1exoribonuclease 1 | Ofte (30–79 %) | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Ofte (30–79 %) | I 1 tilstand |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 4 tilstande |
| FKTNfukutin | Ofte (30–79 %) | I 2 tilstande |
| FRG1FSHD region gene 1 | Ofte (30–79 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| GPC3glypican 3 | Ofte (30–79 %) | I 2 tilstande |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| HYAL2hyaluronidase 2 | Ofte (30–79 %) | I 1 tilstand |
| IFT122intraflagellar transport 122 | Ofte (30–79 %) | I 2 tilstande |
| IFT140intraflagellar transport 140 | Ofte (30–79 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| IFT52intraflagellar transport 52 | Ofte (30–79 %) | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ofte (30–79 %) | I 2 tilstande |
| INTS1integrator complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 2 tilstande |
| IRX5iroquois homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 2 tilstande |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 2 tilstande |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ofte (30–79 %) | I 2 tilstande |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 3 tilstande |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 3 tilstande |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 2 tilstande |
| NXNnucleoredoxin | Ofte (30–79 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ofte (30–79 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 2 tilstande |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ofte (30–79 %) | I 2 tilstande |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 2 tilstande |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 2 tilstande |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 3 tilstande |
| PYCR1pyrroline-5-carboxylate reductase 1 | Ofte (30–79 %) | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | 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 |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Ofte (30–79 %) | I 2 tilstande |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 2 tilstande |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 2 tilstande |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 2 tilstande |
| SLC9A6solute carrier family 9 member A6 | Ofte (30–79 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| TBX5T-box transcription factor 5 | Ofte (30–79 %) | I 2 tilstande |
| TRIP4thyroid hormone receptor interactor 4 | Ofte (30–79 %) | I 2 tilstande |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Ofte (30–79 %) | I 2 tilstande |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 2 tilstande |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 2 tilstande |
| ZDHHC9zDHHC palmitoyltransferase 9 | Ofte (30–79 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 2 tilstande |
| ADGRG1adhesion G protein-coupled receptor G1 | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| AEBP1AE binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ASPHaspartate beta-hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Nogle gange (5–29 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Nogle gange (5–29 %) | I 2 tilstande |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Nogle gange (5–29 %) | I 1 tilstand |
| BCORL1BCL6 corepressor like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| CFL2cofilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CHRM3cholinergic receptor muscarinic 3 | Nogle gange (5–29 %) | I 2 tilstande |
| CHST11carbohydrate sulfotransferase 11 | Nogle gange (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CUX1cut like homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EFNB1ephrin B1 | Nogle gange (5–29 %) | I 2 tilstande |
| EHMT1euchromatic histone lysine methyltransferase 1 | 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 |
| EPG5ectopic P-granules 5 autophagy tethering factor | Nogle gange (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Nogle gange (5–29 %) | I 1 tilstand |
| FBN2fibrillin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| GDF11growth differentiation factor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | 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 |
| GTPBP2GTP binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IHHIndian hedgehog signaling molecule | Nogle gange (5–29 %) | I 2 tilstande |
| INPPL1inositol polyphosphate phosphatase like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Nogle gange (5–29 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Nogle gange (5–29 %) | I 1 tilstand |
| LEF1lymphoid enhancer binding factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Nogle gange (5–29 %) | I 2 tilstande |
| LOXlysyl oxidase | Nogle gange (5–29 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MATN3matrilin 3 | Nogle gange (5–29 %) | I 2 tilstande |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Nogle gange (5–29 %) | I 1 tilstand |
| METMET proto-oncogene, receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MFAP5microfibril associated protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Nogle gange (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MTX2metaxin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Nogle gange (5–29 %) | I 2 tilstande |
| NARS1asparaginyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Nogle gange (5–29 %) | I 1 tilstand |
| NKAPNFKB activating protein | Nogle gange (5–29 %) | I 1 tilstand |
| NPR3natriuretic peptide receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Nogle gange (5–29 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nogle gange (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Nogle gange (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Nogle gange (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Nogle gange (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Nogle gange (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 3 tilstande |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLXND1plexin D1 | Nogle gange (5–29 %) | I 1 tilstand |
| POLR2ARNA polymerase II subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 2 tilstande |
| PQBP1polyglutamine binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Nogle gange (5–29 %) | I 2 tilstande |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| RBM10RNA binding motif protein 10 | Nogle gange (5–29 %) | I 2 tilstande |
| RELREL proto-oncogene, NF-kB subunit | Nogle gange (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL17ribosomal protein L17 | Nogle gange (5–29 %) | I 1 tilstand |
| SCAF4SR-related CTD associated factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SELENONselenoprotein N | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Nogle gange (5–29 %) | I 2 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Nogle gange (5–29 %) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Nogle gange (5–29 %) | I 2 tilstande |
| TGFB2transforming growth factor beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Nogle gange (5–29 %) | I 2 tilstande |
| THSD4thrombospondin type 1 domain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Nogle gange (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Nogle gange (5–29 %) | I 3 tilstande |
| TPM3tropomyosin 3 | Nogle gange (5–29 %) | I 3 tilstande |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 2 tilstande |
| TRMT10AtRNA methyltransferase 10A | Nogle gange (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBBtubulin beta class I | Nogle gange (5–29 %) | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Nogle gange (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| WBP11WW domain binding protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 3 tilstande |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjældent (1–4%) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjældent (1–4%) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Sjældent (1–4%) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Sjældent (1–4%) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Sjældent (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjældent (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjældent (1–4%) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Sjældent (1–4%) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Sjældent (1–4%) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Sjældent (1–4%) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Sjældent (1–4%) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ikke registreret | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registreret | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ikke registreret | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registreret | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registreret | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Ikke registreret | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Ikke registreret | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ikke registreret | I 1 tilstand |
| CRTAPcartilage associated protein | Ikke registreret | I 1 tilstand |
| CUL7cullin 7 | Ikke registreret | I 1 tilstand |
| DHODHdihydroorotate dehydrogenase (quinone) | Ikke registreret | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registreret | I 1 tilstand |
| FBLN5fibulin 5 | Ikke registreret | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Ikke registreret | I 1 tilstand |
| FLNBfilamin B | Ikke registreret | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Ikke registreret | I 1 tilstand |
| HPGD15-hydroxyprostaglandin dehydrogenase | Ikke registreret | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Ikke registreret | I 1 tilstand |
| MYF5myogenic factor 5 | Ikke registreret | I 1 tilstand |
| NOGnoggin | Ikke registreret | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registreret | I 1 tilstand |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Ikke registreret | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Ikke registreret | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registreret | I 1 tilstand |
| RETret proto-oncogene | Ikke registreret | I 1 tilstand |
| SCARF2scavenger receptor class F member 2 | Ikke registreret | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Ikke registreret | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Ikke registreret | I 1 tilstand |
| SPRTNSprT-like N-terminal domain | Ikke registreret | I 1 tilstand |
| TCTN3tectonic family member 3 | 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.
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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.
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