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PrisijungtiKlaustiPradėtinuo 449 $
Požymis
Funnel chest
Klinikinis pavadinimas: Pectus excavatum
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Santrauka
- Kūno sistema
- Abnormality of the musculoskeletal system
Kam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiPradėtinuo 449 $
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/pectus-excavatum.json"
page <- fromJSON(url)
page$trait$nameFunnel chestHP:0000767
Kam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiPradėtinuo 449 $
Vienu tyrimu sužinokite genus, susijusius su Funnel chest, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test346 genų susiję su Funnel chest
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Funnel chest. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ALPK3alpha kinase 3 | Visada | 1 ligoje |
| ATXN7L3ataxin 7 like 3 | Visada | 1 ligoje |
| BCORBCL6 corepressor | Visada | 1 ligoje |
| BNIP1BCL2 interacting protein 1 | Visada | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Visada | 5 ligose |
| CILK1ciliogenesis associated kinase 1 | Visada | 1 ligoje |
| CIROZciliated left-right organizer protein containing ZP-N domains | Visada | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Visada | 3 ligose |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Visada | 1 ligoje |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Visada | 1 ligoje |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| FILIP1filamin A interacting protein 1 | Visada | 1 ligoje |
| FLNAfilamin A | Visada | 4 ligose |
| GINS3GINS complex subunit 3 | Visada | 1 ligoje |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Visada | 1 ligoje |
| GUSBglucuronidase beta | Visada | 1 ligoje |
| IGBP1immunoglobulin binding protein 1 | Visada | 2 ligose |
| ITCHitchy E3 ubiquitin protein ligase | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KDM5Clysine demethylase 5C | Visada | 1 ligoje |
| KIF7kinesin family member 7 | Visada | 2 ligose |
| KRASKRas proto-oncogene, GTPase | Visada | 4 ligose |
| MAP2K1mitogen-activated protein kinase kinase 1 | Visada | 3 ligose |
| MAP2K2mitogen-activated protein kinase kinase 2 | Visada | 3 ligose |
| MAU2MAU2 sister chromatid cohesion factor | Visada | 2 ligose |
| MYOD1myogenic differentiation 1 | Visada | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Visada | 2 ligose |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Visada | 1 ligoje |
| PUM1pumilio RNA binding family member 1 | Visada | 1 ligoje |
| RAB5IFRAB5 interacting factor | Visada | 1 ligoje |
| RMP64ribonuclease MRP subunit p64 | Visada | 1 ligoje |
| SEC24DSEC24 homolog D, COPII component | Visada | 1 ligoje |
| SIK3SIK family kinase 3 | Visada | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Visada | 1 ligoje |
| SMSspermine synthase | Visada | 2 ligose |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Visada | 2 ligose |
| SPRED2sprouty related EVH1 domain containing 2 | Visada | 2 ligose |
| TBCBtubulin folding cofactor B | Visada | 1 ligoje |
Rodyti dar 306 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TBCKTBC1 domain containing kinase | Visada | 2 ligose |
| TGFBR1transforming growth factor beta receptor 1 | Visada | 2 ligose |
| WDR19WD repeat domain 19 | Visada | 2 ligose |
| WDR35WD repeat domain 35 | Visada | 2 ligose |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Labai dažnai (80–99%) | 2 ligose |
| ATP7AATPase copper transporting alpha | Labai dažnai (80–99%) | 3 ligose |
| CBLCbl proto-oncogene | Labai dažnai (80–99%) | 2 ligose |
| CDH11cadherin 11 | Labai dažnai (80–99%) | 2 ligose |
| CHRNGcholinergic receptor nicotinic gamma subunit | Labai dažnai (80–99%) | 1 ligoje |
| EMDemerin | Labai dažnai (80–99%) | 2 ligose |
| FHL1four and a half LIM domains 1 | Labai dažnai (80–99%) | 1 ligoje |
| LMNAlamin A/C | Labai dažnai (80–99%) | 2 ligose |
| LZTR1leucine zipper like post translational regulator 1 | Labai dažnai (80–99%) | 3 ligose |
| MRASmuscle RAS oncogene homolog | Labai dažnai (80–99%) | 2 ligose |
| MYH3myosin heavy chain 3 | Labai dažnai (80–99%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Labai dažnai (80–99%) | 2 ligose |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Labai dažnai (80–99%) | 5 ligose |
| PTCH1patched 1 | Labai dažnai (80–99%) | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Labai dažnai (80–99%) | 3 ligose |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 2 ligose |
| RASA2RAS p21 protein activator 2 | Labai dažnai (80–99%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Labai dažnai (80–99%) | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Labai dažnai (80–99%) | 3 ligose |
| RRASRAS related | Labai dažnai (80–99%) | 1 ligoje |
| RRAS2RAS related 2 | Labai dažnai (80–99%) | 2 ligose |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Labai dažnai (80–99%) | 2 ligose |
| TMCO1transmembrane and coiled-coil domains 1 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM43transmembrane protein 43 | Labai dažnai (80–99%) | 1 ligoje |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Dažnai (30–79%) | 1 ligoje |
| ACTBactin beta | Dažnai (30–79%) | 2 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| ANAPC7anaphase promoting complex subunit 7 | Dažnai (30–79%) | 1 ligoje |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Dažnai (30–79%) | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Dažnai (30–79%) | 1 ligoje |
| CBScystathionine beta-synthase | Dažnai (30–79%) | 2 ligose |
| CD96CD96 molecule | Dažnai (30–79%) | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Dažnai (30–79%) | 1 ligoje |
| COL1A2collagen type I alpha 2 chain | Dažnai (30–79%) | 2 ligose |
| COL5A1collagen type V alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| DICER1dicer 1, ribonuclease III | Dažnai (30–79%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Dažnai (30–79%) | 2 ligose |
| DNMT3BDNA methyltransferase 3 beta | Dažnai (30–79%) | 1 ligoje |
| DUX4double homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Dažnai (30–79%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Dažnai (30–79%) | 2 ligose |
| DVL3dishevelled segment polarity protein 3 | Dažnai (30–79%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Dažnai (30–79%) | 3 ligose |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Dažnai (30–79%) | 1 ligoje |
| ERFETS2 repressor factor | Dažnai (30–79%) | 1 ligoje |
| ERI1exoribonuclease 1 | Dažnai (30–79%) | 1 ligoje |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Dažnai (30–79%) | 1 ligoje |
| FBN1fibrillin 1 | Dažnai (30–79%) | 4 ligose |
| FKTNfukutin | Dažnai (30–79%) | 2 ligose |
| FRG1FSHD region gene 1 | Dažnai (30–79%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Dažnai (30–79%) | 1 ligoje |
| GPC3glypican 3 | Dažnai (30–79%) | 2 ligose |
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| HES7hes family bHLH transcription factor 7 | Dažnai (30–79%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Dažnai (30–79%) | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Dažnai (30–79%) | 1 ligoje |
| HYAL2hyaluronidase 2 | Dažnai (30–79%) | 1 ligoje |
| IFT122intraflagellar transport 122 | Dažnai (30–79%) | 2 ligose |
| IFT140intraflagellar transport 140 | Dažnai (30–79%) | 1 ligoje |
| IFT43intraflagellar transport 43 | Dažnai (30–79%) | 1 ligoje |
| IFT52intraflagellar transport 52 | Dažnai (30–79%) | 1 ligoje |
| IGF1Rinsulin like growth factor 1 receptor | Dažnai (30–79%) | 2 ligose |
| INTS1integrator complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| IPO8importin 8 | Dažnai (30–79%) | 2 ligose |
| IRX5iroquois homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Dažnai (30–79%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 2 ligose |
| MEG3maternally expressed 3 | Dažnai (30–79%) | 2 ligose |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Dažnai (30–79%) | 2 ligose |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Dažnai (30–79%) | 2 ligose |
| NF1neurofibromin 1 | Dažnai (30–79%) | 3 ligose |
| NFIXnuclear factor I X | Dažnai (30–79%) | 3 ligose |
| NOTCH3notch receptor 3 | Dažnai (30–79%) | 2 ligose |
| NXNnucleoredoxin | Dažnai (30–79%) | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Dažnai (30–79%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Dažnai (30–79%) | 2 ligose |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Dažnai (30–79%) | 2 ligose |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Dažnai (30–79%) | 2 ligose |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Dažnai (30–79%) | 2 ligose |
| PRR12proline rich 12 | Dažnai (30–79%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Dažnai (30–79%) | 3 ligose |
| PYCR1pyrroline-5-carboxylate reductase 1 | Dažnai (30–79%) | 1 ligoje |
| RIN2Ras and Rab interactor 2 | Dažnai (30–79%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Dažnai (30–79%) | 2 ligose |
| RTL1retrotransposon Gag like 1 | Dažnai (30–79%) | 2 ligose |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Dažnai (30–79%) | 2 ligose |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Dažnai (30–79%) | 2 ligose |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Dažnai (30–79%) | 1 ligoje |
| SKISKI proto-oncogene | Dažnai (30–79%) | 2 ligose |
| SLC16A2solute carrier family 16 member 2 | Dažnai (30–79%) | 2 ligose |
| SLC9A6solute carrier family 9 member A6 | Dažnai (30–79%) | 1 ligoje |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| TBX5T-box transcription factor 5 | Dažnai (30–79%) | 2 ligose |
| TRIP4thyroid hormone receptor interactor 4 | Dažnai (30–79%) | 2 ligose |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Dažnai (30–79%) | 2 ligose |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Dažnai (30–79%) | 1 ligoje |
| WNT5AWnt family member 5A | Dažnai (30–79%) | 2 ligose |
| ZBTB20zinc finger and BTB domain containing 20 | Dažnai (30–79%) | 2 ligose |
| ZDHHC9zDHHC palmitoyltransferase 9 | Dažnai (30–79%) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Kartais (5–29%) | 2 ligose |
| ADGRG1adhesion G protein-coupled receptor G1 | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| AEBP1AE binding protein 1 | Kartais (5–29%) | 1 ligoje |
| ASPHaspartate beta-hydroxylase | Kartais (5–29%) | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Kartais (5–29%) | 1 ligoje |
| ATG7autophagy related 7 | Kartais (5–29%) | 1 ligoje |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Kartais (5–29%) | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Kartais (5–29%) | 2 ligose |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Kartais (5–29%) | 1 ligoje |
| BCORL1BCL6 corepressor like 1 | Kartais (5–29%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Kartais (5–29%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Kartais (5–29%) | 1 ligoje |
| BRD4bromodomain containing 4 | Kartais (5–29%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| CA2carbonic anhydrase 2 | Kartais (5–29%) | 1 ligoje |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CFL2cofilin 2 | Kartais (5–29%) | 1 ligoje |
| CHRM3cholinergic receptor muscarinic 3 | Kartais (5–29%) | 2 ligose |
| CHST11carbohydrate sulfotransferase 11 | Kartais (5–29%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| COL11A2collagen type XI alpha 2 chain | Kartais (5–29%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CRELD1CRELD disulfide isomerase 1 | Kartais (5–29%) | 1 ligoje |
| CUX1cut like homeobox 1 | Kartais (5–29%) | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| DPF2double PHD fingers 2 | Kartais (5–29%) | 1 ligoje |
| EFNB1ephrin B1 | Kartais (5–29%) | 2 ligose |
| EHMT1euchromatic histone lysine methyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 2 ligose |
| EPG5ectopic P-granules 5 autophagy tethering factor | Kartais (5–29%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| FAM20CFAM20C golgi associated secretory pathway kinase | Kartais (5–29%) | 1 ligoje |
| FBN2fibrillin 2 | Kartais (5–29%) | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Kartais (5–29%) | 2 ligose |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| GDF11growth differentiation factor 11 | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 2 ligose |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Kartais (5–29%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Kartais (5–29%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Kartais (5–29%) | 1 ligoje |
| GTPBP2GTP binding protein 2 | Kartais (5–29%) | 1 ligoje |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Kartais (5–29%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Kartais (5–29%) | 1 ligoje |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| IHHIndian hedgehog signaling molecule | Kartais (5–29%) | 2 ligose |
| INPPL1inositol polyphosphate phosphatase like 1 | Kartais (5–29%) | 1 ligoje |
| ITGA7integrin subunit alpha 7 | Kartais (5–29%) | 1 ligoje |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Kartais (5–29%) | 1 ligoje |
| KDM5Alysine demethylase 5A | Kartais (5–29%) | 1 ligoje |
| KLHL20kelch like family member 20 | Kartais (5–29%) | 1 ligoje |
| KLHL41kelch like family member 41 | Kartais (5–29%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Kartais (5–29%) | 1 ligoje |
| LEF1lymphoid enhancer binding factor 1 | Kartais (5–29%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| LMBRD2LMBR1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| LMOD3leiomodin 3 | Kartais (5–29%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Kartais (5–29%) | 2 ligose |
| LOXlysyl oxidase | Kartais (5–29%) | 1 ligoje |
| LRP4LDL receptor related protein 4 | Kartais (5–29%) | 1 ligoje |
| LTBP1latent transforming growth factor beta binding protein 1 | Kartais (5–29%) | 1 ligoje |
| LTBP2latent transforming growth factor beta binding protein 2 | Kartais (5–29%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Kartais (5–29%) | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 1 ligoje |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 1 ligoje |
| MATN3matrilin 3 | Kartais (5–29%) | 2 ligose |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Kartais (5–29%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Kartais (5–29%) | 1 ligoje |
| METMET proto-oncogene, receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| MFAP5microfibril associated protein 5 | Kartais (5–29%) | 1 ligoje |
| MLXIPLMLX interacting protein like | Kartais (5–29%) | 1 ligoje |
| MSL2MSL complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| MTX2metaxin 2 | Kartais (5–29%) | 1 ligoje |
| MYL2myosin light chain 2 | Kartais (5–29%) | 1 ligoje |
| MYPNmyopalladin | Kartais (5–29%) | 2 ligose |
| NARS1asparaginyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NEBnebulin | Kartais (5–29%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Kartais (5–29%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Kartais (5–29%) | 1 ligoje |
| NKAPNFKB activating protein | Kartais (5–29%) | 1 ligoje |
| NPR3natriuretic peptide receptor 3 | Kartais (5–29%) | 1 ligoje |
| NUP107nucleoporin 107 | Kartais (5–29%) | 1 ligoje |
| PACS1phosphofurin acidic cluster sorting protein 1 | Kartais (5–29%) | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Kartais (5–29%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Kartais (5–29%) | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Kartais (5–29%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Kartais (5–29%) | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Kartais (5–29%) | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Kartais (5–29%) | 1 ligoje |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Kartais (5–29%) | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Kartais (5–29%) | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Kartais (5–29%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 3 ligose |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Kartais (5–29%) | 1 ligoje |
| PLXND1plexin D1 | Kartais (5–29%) | 1 ligoje |
| POLR2ARNA polymerase II subunit A | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 2 ligose |
| PQBP1polyglutamine binding protein 1 | Kartais (5–29%) | 1 ligoje |
| PROKR2prokineticin receptor 2 | Kartais (5–29%) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Kartais (5–29%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Kartais (5–29%) | 2 ligose |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Kartais (5–29%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Kartais (5–29%) | 1 ligoje |
| RBM10RNA binding motif protein 10 | Kartais (5–29%) | 2 ligose |
| RELREL proto-oncogene, NF-kB subunit | Kartais (5–29%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| RPL17ribosomal protein L17 | Kartais (5–29%) | 1 ligoje |
| SCAF4SR-related CTD associated factor 4 | Kartais (5–29%) | 1 ligoje |
| SELENONselenoprotein N | Kartais (5–29%) | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Kartais (5–29%) | 1 ligoje |
| SMAD2SMAD family member 2 | Kartais (5–29%) | 1 ligoje |
| SMAD3SMAD family member 3 | Kartais (5–29%) | 2 ligose |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Kartais (5–29%) | 1 ligoje |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Kartais (5–29%) | 1 ligoje |
| SPRED1sprouty related EVH1 domain containing 1 | Kartais (5–29%) | 1 ligoje |
| SRPX2sushi repeat containing protein X-linked 2 | Kartais (5–29%) | 1 ligoje |
| SRYsex determining region Y | Kartais (5–29%) | 1 ligoje |
| STX1Asyntaxin 1A | Kartais (5–29%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Kartais (5–29%) | 1 ligoje |
| TBL2transducin beta like 2 | Kartais (5–29%) | 1 ligoje |
| TELO2telomere maintenance 2 | Kartais (5–29%) | 1 ligoje |
| TGDSTDP-glucose 4,6-dehydratase | Kartais (5–29%) | 2 ligose |
| TGFB2transforming growth factor beta 2 | Kartais (5–29%) | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Kartais (5–29%) | 2 ligose |
| THSD4thrombospondin type 1 domain containing 4 | Kartais (5–29%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| TMEM94transmembrane protein 94 | Kartais (5–29%) | 1 ligoje |
| TPM2tropomyosin 2 | Kartais (5–29%) | 3 ligose |
| TPM3tropomyosin 3 | Kartais (5–29%) | 3 ligose |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 2 ligose |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Kartais (5–29%) | 1 ligoje |
| TUBBtubulin beta class I | Kartais (5–29%) | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | Kartais (5–29%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| WBP11WW domain binding protein 11 | Kartais (5–29%) | 1 ligoje |
| WDR11WD repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| XPO1exportin 1 | Kartais (5–29%) | 1 ligoje |
| XYLT1xylosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 3 ligose |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZMIZ1zinc finger MIZ-type containing 1 | Kartais (5–29%) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Retai (1–4 %) | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Retai (1–4 %) | 1 ligoje |
| CCDC47coiled-coil domain containing 47 | Retai (1–4 %) | 1 ligoje |
| EBF3EBF transcription factor 3 | Retai (1–4 %) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Retai (1–4 %) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| KDM6Blysine demethylase 6B | Retai (1–4 %) | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Retai (1–4 %) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Retai (1–4 %) | 1 ligoje |
| TBCDtubulin folding cofactor D | Retai (1–4 %) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Neužfiksuota | 1 ligoje |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Neužfiksuota | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Neužfiksuota | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Neužfiksuota | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Neužfiksuota | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Neužfiksuota | 1 ligoje |
| COG4component of oligomeric golgi complex 4 | Neužfiksuota | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| CRTAPcartilage associated protein | Neužfiksuota | 1 ligoje |
| CUL7cullin 7 | Neužfiksuota | 1 ligoje |
| DHODHdihydroorotate dehydrogenase (quinone) | Neužfiksuota | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| FBLN5fibulin 5 | Neužfiksuota | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Neužfiksuota | 1 ligoje |
| FLNBfilamin B | Neužfiksuota | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Neužfiksuota | 1 ligoje |
| HPGD15-hydroxyprostaglandin dehydrogenase | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| MEGF10multiple EGF like domains 10 | Neužfiksuota | 1 ligoje |
| MYF5myogenic factor 5 | Neužfiksuota | 1 ligoje |
| NOGnoggin | Neužfiksuota | 1 ligoje |
| PDHXpyruvate dehydrogenase complex component X | Neužfiksuota | 1 ligoje |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Neužfiksuota | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Neužfiksuota | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Neužfiksuota | 1 ligoje |
| RETret proto-oncogene | Neužfiksuota | 1 ligoje |
| SCARF2scavenger receptor class F member 2 | Neužfiksuota | 1 ligoje |
| SH3PXD2BSH3 and PX domains 2B | Neužfiksuota | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Neužfiksuota | 1 ligoje |
| SPRTNSprT-like N-terminal domain | Neužfiksuota | 1 ligoje |
| TCTN3tectonic family member 3 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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