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Egenskap
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.
Sammendrag
- Kroppssystem
- Abnormality of the musculoskeletal system
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Logg innSpørSekvenser genomet ditt↗
Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/pectus-excavatum.json"
page <- fromJSON(url)
page$trait$nameFunnel chestHP:0000767
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Logg innSpørSekvenser genomet ditt↗
Les genene knyttet til Funnel chest, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test346 gener knyttet til Funnel chest
Endringer i disse genene forårsaker sjeldne tilstander der Funnel chest forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALPK3alpha kinase 3 | Alltid | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Alltid | I 1 tilstand |
| BCORBCL6 corepressor | Alltid | I 1 tilstand |
| BNIP1BCL2 interacting protein 1 | Alltid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 5 tilstander |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Alltid | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Alltid | I 3 tilstander |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Alltid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Alltid | I 1 tilstand |
| FLNAfilamin A | Alltid | I 4 tilstander |
| GINS3GINS complex subunit 3 | Alltid | I 1 tilstand |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Alltid | I 1 tilstand |
| GUSBglucuronidase beta | Alltid | I 1 tilstand |
| IGBP1immunoglobulin binding protein 1 | Alltid | I 2 tilstander |
| ITCHitchy E3 ubiquitin protein ligase | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| KDM5Clysine demethylase 5C | Alltid | I 1 tilstand |
| KIF7kinesin family member 7 | Alltid | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Alltid | I 4 tilstander |
| MAP2K1mitogen-activated protein kinase kinase 1 | Alltid | I 3 tilstander |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 3 tilstander |
| MAU2MAU2 sister chromatid cohesion factor | Alltid | I 2 tilstander |
| MYOD1myogenic differentiation 1 | Alltid | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Alltid | I 2 tilstander |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alltid | I 1 tilstand |
| PUM1pumilio RNA binding family member 1 | Alltid | I 1 tilstand |
| RAB5IFRAB5 interacting factor | Alltid | I 1 tilstand |
| RMP64ribonuclease MRP subunit p64 | Alltid | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Alltid | I 1 tilstand |
| SIK3SIK family kinase 3 | Alltid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Alltid | I 1 tilstand |
| SMSspermine synthase | Alltid | I 2 tilstander |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Alltid | I 2 tilstander |
| SPRED2sprouty related EVH1 domain containing 2 | Alltid | I 2 tilstander |
| TBCBtubulin folding cofactor B | Alltid | I 1 tilstand |
Vis 306 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| TBCKTBC1 domain containing kinase | Alltid | I 2 tilstander |
| TGFBR1transforming growth factor beta receptor 1 | Alltid | I 2 tilstander |
| WDR19WD repeat domain 19 | Alltid | I 2 tilstander |
| WDR35WD repeat domain 35 | Alltid | I 2 tilstander |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Svært ofte (80–99 %) | I 2 tilstander |
| ATP7AATPase copper transporting alpha | Svært ofte (80–99 %) | I 3 tilstander |
| CBLCbl proto-oncogene | Svært ofte (80–99 %) | I 2 tilstander |
| CDH11cadherin 11 | Svært ofte (80–99 %) | I 2 tilstander |
| CHRNGcholinergic receptor nicotinic gamma subunit | Svært ofte (80–99 %) | I 1 tilstand |
| EMDemerin | Svært ofte (80–99 %) | I 2 tilstander |
| FHL1four and a half LIM domains 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LMNAlamin A/C | Svært ofte (80–99 %) | I 2 tilstander |
| LZTR1leucine zipper like post translational regulator 1 | Svært ofte (80–99 %) | I 3 tilstander |
| MRASmuscle RAS oncogene homolog | Svært ofte (80–99 %) | I 2 tilstander |
| MYH3myosin heavy chain 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Svært ofte (80–99 %) | I 5 tilstander |
| PTCH1patched 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Svært ofte (80–99 %) | I 3 tilstander |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| RASA2RAS p21 protein activator 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Svært ofte (80–99 %) | I 3 tilstander |
| RRASRAS related | Svært ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Svært ofte (80–99 %) | I 2 tilstander |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| TMCO1transmembrane and coiled-coil domains 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM43transmembrane protein 43 | Svært 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| COL5A1collagen type V alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| FKTNfukutin | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| INTS1integrator complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 2 tilstander |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ofte (30–79 %) | I 2 tilstander |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstander |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 3 tilstander |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 3 tilstander |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ofte (30–79 %) | I 2 tilstander |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 2 tilstander |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 2 tilstander |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 2 tilstander |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Ofte (30–79 %) | I 2 tilstander |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 2 tilstander |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 2 tilstander |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| TRIP4thyroid hormone receptor interactor 4 | Ofte (30–79 %) | I 2 tilstander |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Ofte (30–79 %) | I 2 tilstander |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 2 tilstander |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 2 tilstander |
| ZDHHC9zDHHC palmitoyltransferase 9 | Ofte (30–79 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Noen ganger (5–29 %) | I 2 tilstander |
| ADGRG1adhesion G protein-coupled receptor G1 | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| AEBP1AE binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASPHaspartate beta-hydroxylase | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Noen ganger (5–29 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Noen ganger (5–29 %) | I 2 tilstander |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Noen ganger (5–29 %) | I 1 tilstand |
| BCORL1BCL6 corepressor like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CFL2cofilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CHRM3cholinergic receptor muscarinic 3 | Noen ganger (5–29 %) | I 2 tilstander |
| CHST11carbohydrate sulfotransferase 11 | Noen ganger (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CUX1cut like homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EFNB1ephrin B1 | Noen ganger (5–29 %) | I 2 tilstander |
| EHMT1euchromatic histone lysine methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 2 tilstander |
| EPG5ectopic P-granules 5 autophagy tethering factor | Noen ganger (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Noen ganger (5–29 %) | I 1 tilstand |
| FBN2fibrillin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| GDF11growth differentiation factor 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IHHIndian hedgehog signaling molecule | Noen ganger (5–29 %) | I 2 tilstander |
| INPPL1inositol polyphosphate phosphatase like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Noen ganger (5–29 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Noen ganger (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Noen ganger (5–29 %) | I 1 tilstand |
| LEF1lymphoid enhancer binding factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Noen ganger (5–29 %) | I 2 tilstander |
| LOXlysyl oxidase | Noen ganger (5–29 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MATN3matrilin 3 | Noen ganger (5–29 %) | I 2 tilstander |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Noen ganger (5–29 %) | I 1 tilstand |
| METMET proto-oncogene, receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MFAP5microfibril associated protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Noen ganger (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MTX2metaxin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Noen ganger (5–29 %) | I 2 tilstander |
| NARS1asparaginyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEBnebulin | Noen ganger (5–29 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Noen ganger (5–29 %) | I 1 tilstand |
| NKAPNFKB activating protein | Noen ganger (5–29 %) | I 1 tilstand |
| NPR3natriuretic peptide receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Noen ganger (5–29 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Noen ganger (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Noen ganger (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Noen ganger (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Noen ganger (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Noen ganger (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 3 tilstander |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLXND1plexin D1 | Noen ganger (5–29 %) | I 1 tilstand |
| POLR2ARNA polymerase II subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 2 tilstander |
| PQBP1polyglutamine binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Noen ganger (5–29 %) | I 2 tilstander |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| RBM10RNA binding motif protein 10 | Noen ganger (5–29 %) | I 2 tilstander |
| RELREL proto-oncogene, NF-kB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL17ribosomal protein L17 | Noen ganger (5–29 %) | I 1 tilstand |
| SCAF4SR-related CTD associated factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SELENONselenoprotein N | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Noen ganger (5–29 %) | I 2 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Noen ganger (5–29 %) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Noen ganger (5–29 %) | I 2 tilstander |
| TGFB2transforming growth factor beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Noen ganger (5–29 %) | I 2 tilstander |
| THSD4thrombospondin type 1 domain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Noen ganger (5–29 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Noen ganger (5–29 %) | I 3 tilstander |
| TPM3tropomyosin 3 | Noen ganger (5–29 %) | I 3 tilstander |
| TRIOtrio Rho guanine nucleotide exchange factor | Noen ganger (5–29 %) | I 2 tilstander |
| TRMT10AtRNA methyltransferase 10A | Noen ganger (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBBtubulin beta class I | Noen ganger (5–29 %) | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| WBP11WW domain binding protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 3 tilstander |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjelden (1–4%) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Sjelden (1–4%) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Sjelden (1–4%) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Sjelden (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjelden (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjelden (1–4%) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Sjelden (1–4%) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Sjelden (1–4%) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Sjelden (1–4%) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Sjelden (1–4%) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ikke registrert | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registrert | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ikke registrert | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registrert | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registrert | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Ikke registrert | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Ikke registrert | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| CRTAPcartilage associated protein | Ikke registrert | I 1 tilstand |
| CUL7cullin 7 | Ikke registrert | I 1 tilstand |
| DHODHdihydroorotate dehydrogenase (quinone) | Ikke registrert | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| FBLN5fibulin 5 | Ikke registrert | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Ikke registrert | I 1 tilstand |
| FLNBfilamin B | Ikke registrert | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Ikke registrert | I 1 tilstand |
| HPGD15-hydroxyprostaglandin dehydrogenase | Ikke registrert | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registrert | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Ikke registrert | I 1 tilstand |
| MYF5myogenic factor 5 | Ikke registrert | I 1 tilstand |
| NOGnoggin | Ikke registrert | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registrert | I 1 tilstand |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Ikke registrert | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Ikke registrert | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registrert | I 1 tilstand |
| RETret proto-oncogene | Ikke registrert | I 1 tilstand |
| SCARF2scavenger receptor class F member 2 | Ikke registrert | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Ikke registrert | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Ikke registrert | I 1 tilstand |
| SPRTNSprT-like N-terminal domain | Ikke registrert | I 1 tilstand |
| TCTN3tectonic family member 3 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.17-8666dff2.
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