Požymis
Rib fusion
Complete or partial merging of adjacent ribs.
Santrauka
- Taip pat vadinama
- Fused ribs
- Kūno sistema
- Abnormality of the musculoskeletal system
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Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/rib-fusion.json"
page <- fromJSON(url)
page$trait$nameVienu tyrimu sužinokite genus, susijusius su Rib fusion, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test26 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 2 of these genesPTCH1SUFUAbout this report →
- CHRNG-Related Multiple Pterygium SyndromeReads 1 of these genesCHRNGAbout this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- Greig Cephalopolysyndactyly SyndromeReads 1 of these genesGLI3About this report →
Show 22 more reports
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Müllerian Aplasia (MRKH Syndrome)Reads 1 of these genesTBX6About this report →
- Congenital Disorders of GlycosylationReads 7 of these genesCOG1DLL3MESP2HES7LFNGRIPPLY2About this report →
- MedulloblastomaReads 1 of these genesSUFUAbout this report →
- Rothmund-Thomson SyndromeReads 1 of these genesRECQL4About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesREREAbout this report →
- Syndromic CraniosynostosisReads 2 of these genesSKIRECQL4About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 2 of these genesGLI3PTCH1About this report →
- Marfan Like SyndromesReads 1 of these genesSKIAbout this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGGAbout this report →
- Autoimmune DiseaseReads 1 of these genesCHRNGAbout this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesACTBAbout this report →
- Intellectual DisabilityReads 3 of these genesNSD2PIGGANKRD11About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesSOX2About this report →
- Inherited ThrombocytopeniasReads 1 of these genesACTBAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesACTBAbout this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesSUFUAbout this report →
- Dilated CardiomyopathyReads 1 of these genesPRDM16About this report →
- Epilepsy (Full Panel)Reads 1 of these genesCPLX1About this report →
- Inherited Neurodegenerative DisordersReads 1 of these genesLETM1About this report →
Vienu tyrimu sužinokite genus, susijusius su Rib fusion, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test48 genų susiję su Rib fusion
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Rib fusion. 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 |
|---|---|---|
| COG1component of oligomeric golgi complex 1 | Visada | 2 ligose |
| DLL3delta like canonical Notch ligand 3 | Visada | 2 ligose |
| DMRT2doublesex and mab-3 related transcription factor 2 | Visada | 1 ligoje |
| MESP2mesoderm posterior bHLH transcription factor 2 | Visada | 3 ligose |
| HES7hes family bHLH transcription factor 7 | Labai dažnai (80–99%) | 2 ligose |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Labai dažnai (80–99%) | 2 ligose |
| RIPPLY2ripply transcriptional repressor 2 | Labai dažnai (80–99%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Labai dažnai (80–99%) | 2 ligose |
| TBX6T-box transcription factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| TMCO1transmembrane and coiled-coil domains 1 | Labai dažnai (80–99%) | 2 ligose |
| CPLX1complexin 1 | Dažnai (30–79%) | 2 ligose |
| CTBP1C-terminal binding protein 1 | Dažnai (30–79%) | 2 ligose |
| FAAP100FA core complex associated protein 100 | Dažnai (30–79%) | 1 ligoje |
| FGFRL1fibroblast growth factor receptor like 1 | Dažnai (30–79%) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Dažnai (30–79%) | 2 ligose |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 2 ligose |
| NELFAnegative elongation factor complex member A | Dažnai (30–79%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Dažnai (30–79%) | 2 ligose |
| NXNnucleoredoxin | Dažnai (30–79%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Dažnai (30–79%) | 1 ligoje |
| PTCH1patched 1 | Dažnai (30–79%) | 1 ligoje |
| PTCH2patched 2 | Dažnai (30–79%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Dažnai (30–79%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Dažnai (30–79%) | 1 ligoje |
| ACTBactin beta | Kartais (5–29%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Kartais (5–29%) | 2 ligose |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Kartais (5–29%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Kartais (5–29%) | 1 ligoje |
| MMP23Bmatrix metallopeptidase 23B | Kartais (5–29%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Kartais (5–29%) | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| PDPNpodoplanin | Kartais (5–29%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Kartais (5–29%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| SKISKI proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 2 ligose |
Rodyti dar 8 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Kartais (5–29%) | 1 ligoje |
| SH2B1SH2B adaptor protein 1 | Retai (1–4 %) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Neužfiksuota | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| SIX6SIX homeobox 6 | Neužfiksuota | 1 ligoje |
| SOX2SRY-box transcription factor 2 | 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 2026.10.19-9814e911.
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Read the genes behind these traits in your own DNA.
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