Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Tunnus
Winged shoulder blade
Kliiniline nimetus: Scapular winging
Abnormal protrusion of the scapula away from the surface of the back.
Kokkuvõte
- Teised nimetused
- Scapula alata, Winged scapulae, Winged scapulas
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 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/scapular-winging.json"
page <- fromJSON(url)
page$trait$nameWinged shoulder bladeHP:0003691
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Lugege välja geenid, mis on seotud Winged shoulder blade-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test110 geeni on seotud tunnusega Winged shoulder blade
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Winged shoulder blade. 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 |
|---|---|---|
| ANXA11annexin A11 | Alati | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Alati | Esineb 2 haiguses |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Alati | Esineb 1 haiguses |
| FBN1fibrillin 1 | Alati | Esineb 1 haiguses |
| FHL1four and a half LIM domains 1 | Alati | Esineb 3 haiguses |
| FILIP1filamin A interacting protein 1 | Alati | Esineb 1 haiguses |
| GYG1glycogenin 1 | Alati | Esineb 1 haiguses |
| LGI4leucine rich repeat LGI family member 4 | Alati | Esineb 1 haiguses |
| LRIF1ligand dependent nuclear receptor interacting factor 1 | Alati | Esineb 1 haiguses |
| POGLUT1protein O-glucosyltransferase 1 | Alati | Esineb 1 haiguses |
| RFC4replication factor C subunit 4 | Alati | Esineb 1 haiguses |
| RYR3ryanodine receptor 3 | Alati | Esineb 1 haiguses |
| SGCAsarcoglycan alpha | Alati | Esineb 2 haiguses |
| SGCDsarcoglycan delta | Alati | Esineb 2 haiguses |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Alati | Esineb 2 haiguses |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Alati | Esineb 2 haiguses |
| TGFB3transforming growth factor beta 3 | Alati | Esineb 1 haiguses |
| TUBA4Atubulin alpha 4a | Alati | Esineb 1 haiguses |
| ACTA1actin alpha 1, skeletal muscle | Väga sageli (80–99%) | Esineb 2 haiguses |
| BICD2BICD cargo adaptor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| CUL7cullin 7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DNMT3BDNA methyltransferase 3 beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| DUX4double homeobox 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Väga sageli (80–99%) | Esineb 1 haiguses |
| FRG1FSHD region gene 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HMGCS13-hydroxy-3-methylglutaryl-CoA synthase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HSPB8heat shock protein family B (small) member 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| OBSL1obscurin like cytoskeletal adaptor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| BAG3BAG cochaperone 3 | Sageli (30–79%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| CAPN3calpain 3 | Sageli (30–79%) | Esineb 3 haiguses |
| COL13A1collagen type XIII alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Sageli (30–79%) | Esineb 1 haiguses |
| EMDemerin | Sageli (30–79%) | Esineb 1 haiguses |
| EMILIN1elastin microfibril interfacer 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LMNAlamin A/C | Sageli (30–79%) | Esineb 3 haiguses |
| MYBPC1myosin binding protein C1 | Sageli (30–79%) | Esineb 1 haiguses |
| MYH7myosin heavy chain 7 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 70 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PAX1paired box 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PRR12proline rich 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Sageli (30–79%) | Esineb 2 haiguses |
| PUS1pseudouridine synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SEPTIN9septin 9 | Sageli (30–79%) | Esineb 1 haiguses |
| SGCGsarcoglycan gamma | Sageli (30–79%) | Esineb 1 haiguses |
| SMPXsmall muscle protein X-linked | Sageli (30–79%) | Esineb 1 haiguses |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SQSTM1sequestosome 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TK2thymidine kinase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TMEM43transmembrane protein 43 | Sageli (30–79%) | Esineb 1 haiguses |
| TTNtitin | Sageli (30–79%) | Esineb 2 haiguses |
| VCPvalosin containing protein | Sageli (30–79%) | Esineb 3 haiguses |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| ANO5anoctamin 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASH1LASH1 like histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| BIN1bridging integrator 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| COL12A1collagen type XII alpha 1 chain | Mõnikord (5–29%) | Esineb 2 haiguses |
| COL6A1collagen type VI alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL6A2collagen type VI alpha 2 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL6A3collagen type VI alpha 3 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DSTYKdual serine/threonine and tyrosine protein kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYSFdysferlin | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLNCfilamin C | Mõnikord (5–29%) | Esineb 1 haiguses |
| GDF11growth differentiation factor 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| JPH1junctophilin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KBTBD13kelch repeat and BTB domain containing 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLHL41kelch like family member 41 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYH2myosin heavy chain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYPNmyopalladin | Mõnikord (5–29%) | Esineb 2 haiguses |
| NEBnebulin | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEFLneurofilament light chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| POMT2protein O-mannosyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SPEGstriated muscle enriched protein kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNNT1troponin T1, slow skeletal type | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TPM3tropomyosin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Mõnikord (5–29%) | Esineb 1 haiguses |
| VWA1von Willebrand factor A domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Harva (1–4%) | Esineb 1 haiguses |
| EBF3EBF transcription factor 3 | Harva (1–4%) | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Harva (1–4%) | Esineb 1 haiguses |
| PPIBpeptidylprolyl isomerase B | Harva (1–4%) | Esineb 1 haiguses |
| RRM1ribonucleotide reductase catalytic subunit M1 | Harva (1–4%) | Esineb 1 haiguses |
| TOP3ADNA topoisomerase III alpha | Harva (1–4%) | Esineb 1 haiguses |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Pole registreeritud | Esineb 1 haiguses |
| C19orf12chromosome 19 open reading frame 12 | Pole registreeritud | Esineb 1 haiguses |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Pole registreeritud | Esineb 1 haiguses |
| FLNAfilamin A | Pole registreeritud | Esineb 1 haiguses |
| FLNBfilamin B | Pole registreeritud | Esineb 1 haiguses |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Pole registreeritud | Esineb 1 haiguses |
| PAX3paired box 3 | Pole registreeritud | Esineb 1 haiguses |
| PLIN4perilipin 4 | Pole registreeritud | Esineb 1 haiguses |
| SGCBsarcoglycan beta | Pole registreeritud | Esineb 1 haiguses |
| TNPO3transportin 3 | Pole registreeritud | Esineb 1 haiguses |
| TRPS1transcriptional repressor GATA binding 1 | Pole registreeritud | Esineb 1 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | 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.
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.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast