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Cecha
Funnel chest
Nazwa kliniczna: Pectus excavatum
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Podsumowanie
- Układ organizmu
- Abnormality of the musculoskeletal system
Funnel chestHP:0000767
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Zaloguj sięZapytajZamówod 449 $
Read the genes linked to Funnel chest, and the rest of your genome, with one test.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test346 genów powiązanych z Funnel chest
Zmiany w tych genach powodują rzadkie choroby, w których występuje Funnel chest. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ALPK3alpha kinase 3 | Zawsze | W 1 chorobie |
| ATXN7L3ataxin 7 like 3 | Zawsze | W 1 chorobie |
| BCORBCL6 corepressor | Zawsze | W 1 chorobie |
| BNIP1BCL2 interacting protein 1 | Zawsze | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Zawsze | W 5 chorobach |
| CILK1ciliogenesis associated kinase 1 | Zawsze | W 1 chorobie |
| CIROZciliated left-right organizer protein containing ZP-N domains | Zawsze | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Zawsze | W 3 chorobach |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Zawsze | W 1 chorobie |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Zawsze | W 1 chorobie |
| ESAMendothelial cell adhesion molecule | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| FILIP1filamin A interacting protein 1 | Zawsze | W 1 chorobie |
| FLNAfilamin A | Zawsze | W 4 chorobach |
| GINS3GINS complex subunit 3 | Zawsze | W 1 chorobie |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Zawsze | W 1 chorobie |
| GUSBglucuronidase beta | Zawsze | W 1 chorobie |
| IGBP1immunoglobulin binding protein 1 | Zawsze | W 2 chorobach |
| ITCHitchy E3 ubiquitin protein ligase | Zawsze | W 1 chorobie |
| KDM2Blysine demethylase 2B | Zawsze | W 1 chorobie |
| KDM5Clysine demethylase 5C | Zawsze | W 1 chorobie |
| KIF7kinesin family member 7 | Zawsze | W 2 chorobach |
| KRASKRas proto-oncogene, GTPase | Zawsze | W 4 chorobach |
| MAP2K1mitogen-activated protein kinase kinase 1 | Zawsze | W 3 chorobach |
| MAP2K2mitogen-activated protein kinase kinase 2 | Zawsze | W 3 chorobach |
| MAU2MAU2 sister chromatid cohesion factor | Zawsze | W 2 chorobach |
| MYOD1myogenic differentiation 1 | Zawsze | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Zawsze | W 2 chorobach |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Zawsze | W 1 chorobie |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Zawsze | W 1 chorobie |
| PUM1pumilio RNA binding family member 1 | Zawsze | W 1 chorobie |
| RAB5IFRAB5 interacting factor | Zawsze | W 1 chorobie |
| RMP64ribonuclease MRP subunit p64 | Zawsze | W 1 chorobie |
| SEC24DSEC24 homolog D, COPII component | Zawsze | W 1 chorobie |
| SIK3SIK family kinase 3 | Zawsze | W 1 chorobie |
| SLC37A4solute carrier family 37 member 4 | Zawsze | W 1 chorobie |
| SMSspermine synthase | Zawsze | W 2 chorobach |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Zawsze | W 2 chorobach |
| SPRED2sprouty related EVH1 domain containing 2 | Zawsze | W 2 chorobach |
| TBCBtubulin folding cofactor B | Zawsze | W 1 chorobie |
Pokaż jeszcze 306 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| TBCKTBC1 domain containing kinase | Zawsze | W 2 chorobach |
| TGFBR1transforming growth factor beta receptor 1 | Zawsze | W 2 chorobach |
| WDR19WD repeat domain 19 | Zawsze | W 2 chorobach |
| WDR35WD repeat domain 35 | Zawsze | W 2 chorobach |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Bardzo często (80–99%) | W 2 chorobach |
| ATP7AATPase copper transporting alpha | Bardzo często (80–99%) | W 3 chorobach |
| CBLCbl proto-oncogene | Bardzo często (80–99%) | W 2 chorobach |
| CDH11cadherin 11 | Bardzo często (80–99%) | W 2 chorobach |
| CHRNGcholinergic receptor nicotinic gamma subunit | Bardzo często (80–99%) | W 1 chorobie |
| EMDemerin | Bardzo często (80–99%) | W 2 chorobach |
| FHL1four and a half LIM domains 1 | Bardzo często (80–99%) | W 1 chorobie |
| LMNAlamin A/C | Bardzo często (80–99%) | W 2 chorobach |
| LZTR1leucine zipper like post translational regulator 1 | Bardzo często (80–99%) | W 3 chorobach |
| MRASmuscle RAS oncogene homolog | Bardzo często (80–99%) | W 2 chorobach |
| MYH3myosin heavy chain 3 | Bardzo często (80–99%) | W 1 chorobie |
| NRASNRAS proto-oncogene, GTPase | Bardzo często (80–99%) | W 2 chorobach |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Bardzo często (80–99%) | W 5 chorobach |
| PTCH1patched 1 | Bardzo często (80–99%) | W 1 chorobie |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Bardzo często (80–99%) | W 3 chorobach |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Bardzo często (80–99%) | W 2 chorobach |
| RASA2RAS p21 protein activator 2 | Bardzo często (80–99%) | W 1 chorobie |
| RIT1Ras like without CAAX 1 | Bardzo często (80–99%) | W 1 chorobie |
| RPS6KA3ribosomal protein S6 kinase A3 | Bardzo często (80–99%) | W 3 chorobach |
| RRASRAS related | Bardzo często (80–99%) | W 1 chorobie |
| RRAS2RAS related 2 | Bardzo często (80–99%) | W 2 chorobach |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Bardzo często (80–99%) | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| TGFBR2transforming growth factor beta receptor 2 | Bardzo często (80–99%) | W 2 chorobach |
| TMCO1transmembrane and coiled-coil domains 1 | Bardzo często (80–99%) | W 1 chorobie |
| TMEM43transmembrane protein 43 | Bardzo często (80–99%) | W 1 chorobie |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Często (30–79%) | W 1 chorobie |
| ACTBactin beta | Często (30–79%) | W 2 chorobach |
| AHDC1AT-hook DNA binding motif containing 1 | Często (30–79%) | W 1 chorobie |
| ANAPC7anaphase promoting complex subunit 7 | Często (30–79%) | W 1 chorobie |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Często (30–79%) | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Często (30–79%) | W 1 chorobie |
| CBScystathionine beta-synthase | Często (30–79%) | W 2 chorobach |
| CD96CD96 molecule | Często (30–79%) | W 1 chorobie |
| CHST14carbohydrate sulfotransferase 14 | Często (30–79%) | W 1 chorobie |
| COL1A2collagen type I alpha 2 chain | Często (30–79%) | W 2 chorobach |
| COL5A1collagen type V alpha 1 chain | Często (30–79%) | W 2 chorobach |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Często (30–79%) | W 1 chorobie |
| DICER1dicer 1, ribonuclease III | Często (30–79%) | W 1 chorobie |
| DLK1delta like non-canonical Notch ligand 1 | Często (30–79%) | W 2 chorobach |
| DNMT3BDNA methyltransferase 3 beta | Często (30–79%) | W 1 chorobie |
| DUX4double homeobox 4 | Często (30–79%) | W 1 chorobie |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Często (30–79%) | W 1 chorobie |
| DVL1dishevelled segment polarity protein 1 | Często (30–79%) | W 2 chorobach |
| DVL3dishevelled segment polarity protein 3 | Często (30–79%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Często (30–79%) | W 3 chorobach |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Często (30–79%) | W 1 chorobie |
| ERFETS2 repressor factor | Często (30–79%) | W 1 chorobie |
| ERI1exoribonuclease 1 | Często (30–79%) | W 1 chorobie |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Często (30–79%) | W 1 chorobie |
| FBN1fibrillin 1 | Często (30–79%) | W 4 chorobach |
| FKTNfukutin | Często (30–79%) | W 2 chorobach |
| FRG1FSHD region gene 1 | Często (30–79%) | W 1 chorobie |
| FZD2frizzled class receptor 2 | Często (30–79%) | W 1 chorobie |
| GPC3glypican 3 | Często (30–79%) | W 2 chorobach |
| GPC4glypican 4 | Często (30–79%) | W 1 chorobie |
| HES7hes family bHLH transcription factor 7 | Często (30–79%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Często (30–79%) | W 1 chorobie |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Często (30–79%) | W 1 chorobie |
| HYAL2hyaluronidase 2 | Często (30–79%) | W 1 chorobie |
| IFT122intraflagellar transport 122 | Często (30–79%) | W 2 chorobach |
| IFT140intraflagellar transport 140 | Często (30–79%) | W 1 chorobie |
| IFT43intraflagellar transport 43 | Często (30–79%) | W 1 chorobie |
| IFT52intraflagellar transport 52 | Często (30–79%) | W 1 chorobie |
| IGF1Rinsulin like growth factor 1 receptor | Często (30–79%) | W 2 chorobach |
| INTS1integrator complex subunit 1 | Często (30–79%) | W 1 chorobie |
| IPO8importin 8 | Często (30–79%) | W 2 chorobach |
| IRX5iroquois homeobox 5 | Często (30–79%) | W 1 chorobie |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | Często (30–79%) | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Często (30–79%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Często (30–79%) | W 2 chorobach |
| MEG3maternally expressed 3 | Często (30–79%) | W 2 chorobach |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Często (30–79%) | W 2 chorobach |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Często (30–79%) | W 2 chorobach |
| NF1neurofibromin 1 | Często (30–79%) | W 3 chorobach |
| NFIXnuclear factor I X | Często (30–79%) | W 3 chorobach |
| NOTCH3notch receptor 3 | Często (30–79%) | W 2 chorobach |
| NXNnucleoredoxin | Często (30–79%) | W 1 chorobie |
| OSGEPO-sialoglycoprotein endopeptidase | Często (30–79%) | W 1 chorobie |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Często (30–79%) | W 2 chorobach |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Często (30–79%) | W 2 chorobach |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Często (30–79%) | W 2 chorobach |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Często (30–79%) | W 2 chorobach |
| PRR12proline rich 12 | Często (30–79%) | W 1 chorobie |
| PTENphosphatase and tensin homolog | Często (30–79%) | W 3 chorobach |
| PYCR1pyrroline-5-carboxylate reductase 1 | Często (30–79%) | W 1 chorobie |
| RIN2Ras and Rab interactor 2 | Często (30–79%) | W 1 chorobie |
| RNU5B-1RNA, U5B small nuclear 1 | Często (30–79%) | W 1 chorobie |
| ROR2ROR family WNT receptor 2 | Często (30–79%) | W 2 chorobach |
| RTL1retrotransposon Gag like 1 | Często (30–79%) | W 2 chorobach |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Często (30–79%) | W 2 chorobach |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Często (30–79%) | W 2 chorobach |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Często (30–79%) | W 1 chorobie |
| SKISKI proto-oncogene | Często (30–79%) | W 2 chorobach |
| SLC16A2solute carrier family 16 member 2 | Często (30–79%) | W 2 chorobach |
| SLC9A6solute carrier family 9 member A6 | Często (30–79%) | W 1 chorobie |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Często (30–79%) | W 1 chorobie |
| TBX5T-box transcription factor 5 | Często (30–79%) | W 2 chorobach |
| TRIP4thyroid hormone receptor interactor 4 | Często (30–79%) | W 2 chorobach |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Często (30–79%) | W 2 chorobach |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Często (30–79%) | W 1 chorobie |
| WNT5AWnt family member 5A | Często (30–79%) | W 2 chorobach |
| ZBTB20zinc finger and BTB domain containing 20 | Często (30–79%) | W 2 chorobach |
| ZDHHC9zDHHC palmitoyltransferase 9 | Często (30–79%) | W 1 chorobie |
| ACTA1actin alpha 1, skeletal muscle | Czasami (5–29%) | W 2 chorobach |
| ADGRG1adhesion G protein-coupled receptor G1 | Czasami (5–29%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Czasami (5–29%) | W 1 chorobie |
| AEBP1AE binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| ASPHaspartate beta-hydroxylase | Czasami (5–29%) | W 1 chorobie |
| ASXL1ASXL transcriptional regulator 1 | Czasami (5–29%) | W 1 chorobie |
| ATG7autophagy related 7 | Czasami (5–29%) | W 1 chorobie |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Czasami (5–29%) | W 1 chorobie |
| B3GALT6beta-1,3-galactosyltransferase 6 | Czasami (5–29%) | W 2 chorobach |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Czasami (5–29%) | W 1 chorobie |
| BCL11ABCL11 transcription factor A | Czasami (5–29%) | W 1 chorobie |
| BCORL1BCL6 corepressor like 1 | Czasami (5–29%) | W 1 chorobie |
| BICD2BICD cargo adaptor 2 | Czasami (5–29%) | W 1 chorobie |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Czasami (5–29%) | W 1 chorobie |
| BRD4bromodomain containing 4 | Czasami (5–29%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Czasami (5–29%) | W 1 chorobie |
| CA2carbonic anhydrase 2 | Czasami (5–29%) | W 1 chorobie |
| CDC42BPBCDC42 binding protein kinase beta | Czasami (5–29%) | W 1 chorobie |
| CFL2cofilin 2 | Czasami (5–29%) | W 1 chorobie |
| CHRM3cholinergic receptor muscarinic 3 | Czasami (5–29%) | W 2 chorobach |
| CHST11carbohydrate sulfotransferase 11 | Czasami (5–29%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Czasami (5–29%) | W 1 chorobie |
| COL11A2collagen type XI alpha 2 chain | Czasami (5–29%) | W 1 chorobie |
| COL12A1collagen type XII alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| COL3A1collagen type III alpha 1 chain | Czasami (5–29%) | W 1 chorobie |
| CRELD1CRELD disulfide isomerase 1 | Czasami (5–29%) | W 1 chorobie |
| CUX1cut like homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| DDR2discoidin domain receptor tyrosine kinase 2 | Czasami (5–29%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Czasami (5–29%) | W 1 chorobie |
| DPF2double PHD fingers 2 | Czasami (5–29%) | W 1 chorobie |
| EFNB1ephrin B1 | Czasami (5–29%) | W 2 chorobach |
| EHMT1euchromatic histone lysine methyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Czasami (5–29%) | W 1 chorobie |
| ELNelastin | Czasami (5–29%) | W 2 chorobach |
| EPG5ectopic P-granules 5 autophagy tethering factor | Czasami (5–29%) | W 1 chorobie |
| EXTL3exostosin like glycosyltransferase 3 | Czasami (5–29%) | W 1 chorobie |
| FAM20CFAM20C golgi associated secretory pathway kinase | Czasami (5–29%) | W 1 chorobie |
| FBN2fibrillin 2 | Czasami (5–29%) | W 1 chorobie |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Czasami (5–29%) | W 2 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Czasami (5–29%) | W 1 chorobie |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Czasami (5–29%) | W 1 chorobie |
| GDF11growth differentiation factor 11 | Czasami (5–29%) | W 1 chorobie |
| GNB1G protein subunit beta 1 | Czasami (5–29%) | W 2 chorobach |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Czasami (5–29%) | W 1 chorobie |
| GTF2Igeneral transcription factor IIi | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Czasami (5–29%) | W 1 chorobie |
| HDAC8histone deacetylase 8 | Czasami (5–29%) | W 1 chorobie |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Czasami (5–29%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Czasami (5–29%) | W 1 chorobie |
| IHHIndian hedgehog signaling molecule | Czasami (5–29%) | W 2 chorobach |
| INPPL1inositol polyphosphate phosphatase like 1 | Czasami (5–29%) | W 1 chorobie |
| ITGA7integrin subunit alpha 7 | Czasami (5–29%) | W 1 chorobie |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| KAT6Alysine acetyltransferase 6A | Czasami (5–29%) | W 1 chorobie |
| KDM5Alysine demethylase 5A | Czasami (5–29%) | W 1 chorobie |
| KLHL20kelch like family member 20 | Czasami (5–29%) | W 1 chorobie |
| KLHL41kelch like family member 41 | Czasami (5–29%) | W 1 chorobie |
| KMT2Alysine methyltransferase 2A | Czasami (5–29%) | W 1 chorobie |
| LEF1lymphoid enhancer binding factor 1 | Czasami (5–29%) | W 1 chorobie |
| LIMK1LIM domain kinase 1 | Czasami (5–29%) | W 1 chorobie |
| LMBRD2LMBR1 domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| LMOD3leiomodin 3 | Czasami (5–29%) | W 1 chorobie |
| LMX1BLIM homeobox transcription factor 1 beta | Czasami (5–29%) | W 2 chorobach |
| LOXlysyl oxidase | Czasami (5–29%) | W 1 chorobie |
| LRP4LDL receptor related protein 4 | Czasami (5–29%) | W 1 chorobie |
| LTBP1latent transforming growth factor beta binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| LTBP2latent transforming growth factor beta binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| MAFMAF bZIP transcription factor | Czasami (5–29%) | W 1 chorobie |
| MAN2B1mannosidase alpha class 2B member 1 | Czasami (5–29%) | W 1 chorobie |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Czasami (5–29%) | W 1 chorobie |
| MAPRE2microtubule associated protein RP/EB family member 2 | Czasami (5–29%) | W 1 chorobie |
| MATN3matrilin 3 | Czasami (5–29%) | W 2 chorobach |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Czasami (5–29%) | W 1 chorobie |
| MEGF8multiple EGF like domains 8 | Czasami (5–29%) | W 1 chorobie |
| METMET proto-oncogene, receptor tyrosine kinase | Czasami (5–29%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Czasami (5–29%) | W 1 chorobie |
| MFAP5microfibril associated protein 5 | Czasami (5–29%) | W 1 chorobie |
| MLXIPLMLX interacting protein like | Czasami (5–29%) | W 1 chorobie |
| MSL2MSL complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| MTX2metaxin 2 | Czasami (5–29%) | W 1 chorobie |
| MYL2myosin light chain 2 | Czasami (5–29%) | W 1 chorobie |
| MYPNmyopalladin | Czasami (5–29%) | W 2 chorobach |
| NARS1asparaginyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Czasami (5–29%) | W 1 chorobie |
| NEBnebulin | Czasami (5–29%) | W 1 chorobie |
| NEK1NIMA related kinase 1 | Czasami (5–29%) | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Czasami (5–29%) | W 1 chorobie |
| NKAPNFKB activating protein | Czasami (5–29%) | W 1 chorobie |
| NPR3natriuretic peptide receptor 3 | Czasami (5–29%) | W 1 chorobie |
| NUP107nucleoporin 107 | Czasami (5–29%) | W 1 chorobie |
| PACS1phosphofurin acidic cluster sorting protein 1 | Czasami (5–29%) | W 1 chorobie |
| PCGF2polycomb group ring finger 2 | Czasami (5–29%) | W 1 chorobie |
| PGAP2post-GPI attachment to proteins 2 | Czasami (5–29%) | W 1 chorobie |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Czasami (5–29%) | W 1 chorobie |
| PI4KAphosphatidylinositol 4-kinase alpha | Czasami (5–29%) | W 1 chorobie |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Czasami (5–29%) | W 1 chorobie |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Czasami (5–29%) | W 1 chorobie |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Czasami (5–29%) | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Czasami (5–29%) | W 1 chorobie |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Czasami (5–29%) | W 1 chorobie |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 3 chorobach |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Czasami (5–29%) | W 1 chorobie |
| PLXND1plexin D1 | Czasami (5–29%) | W 1 chorobie |
| POLR2ARNA polymerase II subunit A | Czasami (5–29%) | W 1 chorobie |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Czasami (5–29%) | W 2 chorobach |
| PQBP1polyglutamine binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| PROKR2prokineticin receptor 2 | Czasami (5–29%) | W 1 chorobie |
| PTBP1polypyrimidine tract binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| PUF60poly(U) binding splicing factor 60 | Czasami (5–29%) | W 2 chorobach |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Czasami (5–29%) | W 1 chorobie |
| RAD21RAD21 cohesin complex component | Czasami (5–29%) | W 1 chorobie |
| RBM10RNA binding motif protein 10 | Czasami (5–29%) | W 2 chorobach |
| RELREL proto-oncogene, NF-kB subunit | Czasami (5–29%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Czasami (5–29%) | W 1 chorobie |
| RPL17ribosomal protein L17 | Czasami (5–29%) | W 1 chorobie |
| SCAF4SR-related CTD associated factor 4 | Czasami (5–29%) | W 1 chorobie |
| SELENONselenoprotein N | Czasami (5–29%) | W 1 chorobie |
| SLC2A10solute carrier family 2 member 10 | Czasami (5–29%) | W 1 chorobie |
| SMAD2SMAD family member 2 | Czasami (5–29%) | W 1 chorobie |
| SMAD3SMAD family member 3 | Czasami (5–29%) | W 2 chorobach |
| SMC1Astructural maintenance of chromosomes 1A | Czasami (5–29%) | W 1 chorobie |
| SMC3structural maintenance of chromosomes 3 | Czasami (5–29%) | W 1 chorobie |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Czasami (5–29%) | W 1 chorobie |
| SPRED1sprouty related EVH1 domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| SRPX2sushi repeat containing protein X-linked 2 | Czasami (5–29%) | W 1 chorobie |
| SRYsex determining region Y | Czasami (5–29%) | W 1 chorobie |
| STX1Asyntaxin 1A | Czasami (5–29%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Czasami (5–29%) | W 1 chorobie |
| TBL2transducin beta like 2 | Czasami (5–29%) | W 1 chorobie |
| TELO2telomere maintenance 2 | Czasami (5–29%) | W 1 chorobie |
| TGDSTDP-glucose 4,6-dehydratase | Czasami (5–29%) | W 2 chorobach |
| TGFB2transforming growth factor beta 2 | Czasami (5–29%) | W 1 chorobie |
| TGFB3transforming growth factor beta 3 | Czasami (5–29%) | W 2 chorobach |
| THSD4thrombospondin type 1 domain containing 4 | Czasami (5–29%) | W 1 chorobie |
| TMEM270transmembrane protein 270 | Czasami (5–29%) | W 1 chorobie |
| TMEM94transmembrane protein 94 | Czasami (5–29%) | W 1 chorobie |
| TPM2tropomyosin 2 | Czasami (5–29%) | W 3 chorobach |
| TPM3tropomyosin 3 | Czasami (5–29%) | W 3 chorobach |
| TRIOtrio Rho guanine nucleotide exchange factor | Czasami (5–29%) | W 2 chorobach |
| TRMT10AtRNA methyltransferase 10A | Czasami (5–29%) | W 1 chorobie |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Czasami (5–29%) | W 1 chorobie |
| TUBBtubulin beta class I | Czasami (5–29%) | W 1 chorobie |
| VPS13Bvacuolar protein sorting 13 homolog B | Czasami (5–29%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Czasami (5–29%) | W 1 chorobie |
| WBP11WW domain binding protein 11 | Czasami (5–29%) | W 1 chorobie |
| WDR11WD repeat domain 11 | Czasami (5–29%) | W 1 chorobie |
| XPO1exportin 1 | Czasami (5–29%) | W 1 chorobie |
| XYLT1xylosyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Czasami (5–29%) | W 3 chorobach |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ZMIZ1zinc finger MIZ-type containing 1 | Czasami (5–29%) | W 1 chorobie |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rzadko (1–4%) | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Rzadko (1–4%) | W 1 chorobie |
| CCDC47coiled-coil domain containing 47 | Rzadko (1–4%) | W 1 chorobie |
| EBF3EBF transcription factor 3 | Rzadko (1–4%) | W 1 chorobie |
| GBA1glucosylceramidase beta 1 | Rzadko (1–4%) | W 1 chorobie |
| GJA5gap junction protein alpha 5 | Rzadko (1–4%) | W 1 chorobie |
| GJA8gap junction protein alpha 8 | Rzadko (1–4%) | W 1 chorobie |
| KDM6Blysine demethylase 6B | Rzadko (1–4%) | W 1 chorobie |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Rzadko (1–4%) | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Rzadko (1–4%) | W 1 chorobie |
| TBCDtubulin folding cofactor D | Rzadko (1–4%) | W 1 chorobie |
| ADAMTSL2ADAMTS like 2 | Nie odnotowano | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Nie odnotowano | W 1 chorobie |
| AMER1APC membrane recruitment protein 1 | Nie odnotowano | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Nie odnotowano | W 1 chorobie |
| BMP2bone morphogenetic protein 2 | Nie odnotowano | W 1 chorobie |
| CCBE1collagen and calcium binding EGF domains 1 | Nie odnotowano | W 1 chorobie |
| COG4component of oligomeric golgi complex 4 | Nie odnotowano | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Nie odnotowano | W 1 chorobie |
| CRTAPcartilage associated protein | Nie odnotowano | W 1 chorobie |
| CUL7cullin 7 | Nie odnotowano | W 1 chorobie |
| DHODHdihydroorotate dehydrogenase (quinone) | Nie odnotowano | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Nie odnotowano | W 1 chorobie |
| FBLN5fibulin 5 | Nie odnotowano | W 1 chorobie |
| FGFR3fibroblast growth factor receptor 3 | Nie odnotowano | W 1 chorobie |
| FLNBfilamin B | Nie odnotowano | W 1 chorobie |
| FMR1fragile X messenger ribonucleoprotein 1 | Nie odnotowano | W 1 chorobie |
| HPGD15-hydroxyprostaglandin dehydrogenase | Nie odnotowano | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Nie odnotowano | W 1 chorobie |
| MEGF10multiple EGF like domains 10 | Nie odnotowano | W 1 chorobie |
| MYF5myogenic factor 5 | Nie odnotowano | W 1 chorobie |
| NOGnoggin | Nie odnotowano | W 1 chorobie |
| PDHXpyruvate dehydrogenase complex component X | Nie odnotowano | W 1 chorobie |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Nie odnotowano | W 1 chorobie |
| PPIBpeptidylprolyl isomerase B | Nie odnotowano | W 1 chorobie |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Nie odnotowano | W 1 chorobie |
| RETret proto-oncogene | Nie odnotowano | W 1 chorobie |
| SCARF2scavenger receptor class F member 2 | Nie odnotowano | W 1 chorobie |
| SH3PXD2BSH3 and PX domains 2B | Nie odnotowano | W 1 chorobie |
| SOX10SRY-box transcription factor 10 | Nie odnotowano | W 1 chorobie |
| SPRTNSprT-like N-terminal domain | Nie odnotowano | W 1 chorobie |
| TCTN3tectonic family member 3 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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