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Tunnus
Pigeon chest
Kliiniline nimetus: Pectus carinatum
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Kokkuvõte
- Kehasüsteem
- Abnormality of the musculoskeletal system
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/pectus-carinatum.json"
page <- fromJSON(url)
page$trait$namePigeon chestHP:0000768
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Lugege välja geenid, mis on seotud Pigeon chest-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test182 geeni on seotud tunnusega Pigeon chest
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Pigeon chest. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ASH1LASH1 like histone lysine methyltransferase | Alati | Esineb 1 haiguses |
| BRD4bromodomain containing 4 | Alati | Esineb 1 haiguses |
| COL13A1collagen type XIII alpha 1 chain | Alati | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Alati | Esineb 6 haiguses |
| CUL7cullin 7 | Alati | Esineb 1 haiguses |
| ERI1exoribonuclease 1 | Alati | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Alati | Esineb 1 haiguses |
| FRYLFRY like transcription coactivator | Alati | Esineb 1 haiguses |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Alati | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Alati | Esineb 1 haiguses |
| GTPBP1GTP binding protein 1 | Alati | Esineb 1 haiguses |
| HYOU1hypoxia up-regulated 1 | Alati | Esineb 1 haiguses |
| IL6STinterleukin 6 cytokine family signal transducer | Alati | Esineb 1 haiguses |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alati | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Alati | Esineb 1 haiguses |
| KRT5keratin 5 | Alati | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Alati | Esineb 1 haiguses |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alati | Esineb 1 haiguses |
| OBSL1obscurin like cytoskeletal adaptor 1 | Alati | Esineb 1 haiguses |
| PLAAphospholipase A2 activating protein | Alati | Esineb 2 haiguses |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Alati | Esineb 1 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Alati | Esineb 1 haiguses |
| RAB33BRAB33B, member RAS oncogene family | Alati | Esineb 1 haiguses |
| SLC12A2solute carrier family 12 member 2 | Alati | Esineb 1 haiguses |
| SLC13A1solute carrier family 13 member 1 | Alati | Esineb 1 haiguses |
| SLC37A4solute carrier family 37 member 4 | Alati | Esineb 1 haiguses |
| SP7Sp7 transcription factor | Alati | Esineb 1 haiguses |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alati | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 4 haiguses |
| CBLCbl proto-oncogene | Väga sageli (80–99%) | Esineb 1 haiguses |
| DYMdymeclin | Väga sageli (80–99%) | Esineb 2 haiguses |
| FBN1fibrillin 1 | Väga sageli (80–99%) | Esineb 5 haiguses |
| KRASKRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 3 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| MRASmuscle RAS oncogene homolog | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEU1neuraminidase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Väga sageli (80–99%) | Esineb 3 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 142 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| RASA2RAS p21 protein activator 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RIT1Ras like without CAAX 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Väga sageli (80–99%) | Esineb 3 haiguses |
| RRASRAS related | Väga sageli (80–99%) | Esineb 1 haiguses |
| RRAS2RAS related 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ACTBactin beta | Sageli (30–79%) | Esineb 1 haiguses |
| AGAaspartylglucosaminidase | Sageli (30–79%) | Esineb 1 haiguses |
| ARSBarylsulfatase B | Sageli (30–79%) | Esineb 1 haiguses |
| ATP7AATPase copper transporting alpha | Sageli (30–79%) | Esineb 2 haiguses |
| BMP1bone morphogenetic protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CBScystathionine beta-synthase | Sageli (30–79%) | Esineb 2 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FLNBfilamin B | Sageli (30–79%) | Esineb 3 haiguses |
| FN1fibronectin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GZF1GDNF inducible zinc finger protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HBA1hemoglobin subunit alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HBA2hemoglobin subunit alpha 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Sageli (30–79%) | Esineb 2 haiguses |
| MAXMYC associated transcriptional regulator X | Sageli (30–79%) | Esineb 1 haiguses |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MEGF8multiple EGF like domains 8 | Sageli (30–79%) | Esineb 1 haiguses |
| MMEmembrane metalloendopeptidase | Sageli (30–79%) | Esineb 2 haiguses |
| MYH3myosin heavy chain 3 | Sageli (30–79%) | Esineb 2 haiguses |
| NALCNsodium leak channel, non-selective | Sageli (30–79%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NKAPNFKB activating protein | Sageli (30–79%) | Esineb 1 haiguses |
| NKX2-5NK2 homeobox 5 | Sageli (30–79%) | Esineb 1 haiguses |
| NKX3-2NK3 homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Sageli (30–79%) | Esineb 1 haiguses |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Sageli (30–79%) | Esineb 1 haiguses |
| RAD21RAD21 cohesin complex component | Sageli (30–79%) | Esineb 1 haiguses |
| SIL1SIL1 nucleotide exchange factor | Sageli (30–79%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Sageli (30–79%) | Esineb 2 haiguses |
| SOX5SRY-box transcription factor 5 | Sageli (30–79%) | Esineb 2 haiguses |
| SV2Asynaptic vesicle glycoprotein 2A | Sageli (30–79%) | Esineb 1 haiguses |
| TGFBR1transforming growth factor beta receptor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TNFRSF11ATNF receptor superfamily member 11a | Sageli (30–79%) | Esineb 1 haiguses |
| TNFRSF11BTNF receptor superfamily member 11b | Sageli (30–79%) | Esineb 1 haiguses |
| TNNT1troponin T1, slow skeletal type | Sageli (30–79%) | Esineb 3 haiguses |
| TRAF7TNF receptor associated factor 7 | Sageli (30–79%) | Esineb 1 haiguses |
| TRPS1transcriptional repressor GATA binding 1 | Sageli (30–79%) | Esineb 2 haiguses |
| UCHL1ubiquitin C-terminal hydrolase L1 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Sageli (30–79%) | Esineb 2 haiguses |
| VPS37AVPS37A subunit of ESCRT-I | Sageli (30–79%) | Esineb 2 haiguses |
| XYLT2xylosyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF668zinc finger protein 668 | Sageli (30–79%) | Esineb 1 haiguses |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATAD3AATPase family AAA domain containing 3A | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMP2bone morphogenetic protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL11A2collagen type XI alpha 2 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CSF1Rcolony stimulating factor 1 receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| DSTdystonin | Mõnikord (5–29%) | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DVL3dishevelled segment polarity protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM149B1family with sequence similarity 149 member B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBN2fibrillin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZD2frizzled class receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLB1galactosidase beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GORABgolgin, RAB6 interacting | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPC3glypican 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HDAC4histone deacetylase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IHHIndian hedgehog signaling molecule | Mõnikord (5–29%) | Esineb 2 haiguses |
| IPO8importin 8 | Mõnikord (5–29%) | Esineb 2 haiguses |
| LGI3leucine rich repeat LGI family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAN1B1mannosidase alpha class 1B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MED25mediator complex subunit 25 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MFAP5microfibril associated protein 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYF5myogenic factor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NXNnucleoredoxin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTF1Apancreas associated transcription factor 1a | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAP1BRAP1B, member of RAS oncogene family | Mõnikord (5–29%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF135ring finger protein 135 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A10solute carrier family 2 member 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD2SMAD family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD3SMAD family member 3 | Mõnikord (5–29%) | Esineb 3 haiguses |
| SNX14sorting nexin 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX9SRY-box transcription factor 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX3T-box transcription factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX6T-box transcription factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TELO2telomere maintenance 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFB2transforming growth factor beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFB3transforming growth factor beta 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TOE1target of EGR1, exonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Mõnikord (5–29%) | Esineb 3 haiguses |
| UBTFupstream binding transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Mõnikord (5–29%) | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Mõnikord (5–29%) | Esineb 1 haiguses |
| XYLT1xylosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Mõnikord (5–29%) | Esineb 3 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACP5acid phosphatase 5, tartrate resistant | Harva (1–4%) | Esineb 1 haiguses |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Harva (1–4%) | Esineb 1 haiguses |
| NEK1NIMA related kinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| SMSspermine synthase | Harva (1–4%) | Esineb 2 haiguses |
| TBCDtubulin folding cofactor D | Harva (1–4%) | Esineb 1 haiguses |
| B4GALT7beta-1,4-galactosyltransferase 7 | Pole registreeritud | Esineb 1 haiguses |
| BGNbiglycan | Pole registreeritud | Esineb 1 haiguses |
| CHRM3cholinergic receptor muscarinic 3 | Pole registreeritud | Esineb 1 haiguses |
| COG4component of oligomeric golgi complex 4 | Pole registreeritud | Esineb 1 haiguses |
| EVCEvC ciliary complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| EVC2EvC ciliary complex subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| FKBP10FKBP prolyl isomerase 10 | Pole registreeritud | Esineb 1 haiguses |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Pole registreeritud | Esineb 1 haiguses |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Pole registreeritud | Esineb 1 haiguses |
| GUSBglucuronidase beta | Pole registreeritud | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Pole registreeritud | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| ORC1origin recognition complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| PCGF2polycomb group ring finger 2 | Pole registreeritud | Esineb 1 haiguses |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Pole registreeritud | Esineb 1 haiguses |
| PPIBpeptidylprolyl isomerase B | Pole registreeritud | Esineb 1 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| TGDSTDP-glucose 4,6-dehydratase | Pole registreeritud | Esineb 1 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Pole registreeritud | Esineb 1 haiguses |
| WNT7AWnt family member 7A | Pole registreeritud | Esineb 1 haiguses |
| ZDHHC9zDHHC palmitoyltransferase 9 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast