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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Thickened helices
Increased thickness of the helix of the ear.
Santrauka
- Taip pat vadinama
- Thick helix
- Kūno sistema
- Abnormality of the ear
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/thickened-helices.json"
page <- fromJSON(url)
page$trait$nameThickened helicesHP:0000391
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Thickened helices, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test28 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.
- Noonan SyndromeReads 17 of these genesBRAFKRASMAP2K1MAP2K2SOS1CBLAbout this report →
- Hypertrophic CardiomyopathyReads 16 of these genesBRAFKRASMAP2K1MAP2K2SOS1LZTR1About this report →
- GPI Anchor Biosynthesis DefectsReads 8 of these genesPIGSPGAP2PGAP3PIGLPIGOPIGVAbout this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
Show 24 more reports
- CDH2-Related ACOGSReads 1 of these genesCDH2About this report →
- Hereditary RetinoblastomaReads 1 of these genesRB1About this report →
- PBX1-Related Kidney and Urinary Tract AnomaliesReads 1 of these genesPBX1About this report →
- Perlman SyndromeReads 1 of these genesDIS3L2About this report →
- SPOP-Related Neurodevelopmental Disorder with MacrocephalyReads 1 of these genesSPOPAbout this report →
- Congenital Disorders of GlycosylationReads 8 of these genesEDEM3PGAP2PGAP3PIGLPIGOPIGVAbout this report →
- Hereditary Gingival FibromatosisReads 1 of these genesSOS1About this report →
- Intellectual DisabilityReads 9 of these genesDYRK1ATCF4DDX3XHIVEP2PIGLSIN3AAbout this report →
- NeurofibromatosisReads 1 of these genesLZTR1About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Marfan Like SyndromesReads 1 of these genesFBN1About this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesCDH2About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesTCF4About this report →
- Autoimmune DiseaseReads 1 of these genesKRASAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesZFXAbout this report →
- Syndromic CraniosynostosisReads 1 of these genesFGFR2About this report →
- VitreoretinopathyReads 1 of these genesXYLT2About this report →
- Osteogenesis ImperfectaReads 1 of these genesXYLT2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesTAF1About this report →
- DNA Repair DiseaseReads 1 of these genesNBNAbout this report →
- Epilepsy (Full Panel)Reads 2 of these genesPIGSRNU2-2About this report →
- Dilated CardiomyopathyReads 1 of these genesRAF1About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesKRASAbout this report →
Vienu tyrimu sužinokite genus, susijusius su Thickened helices, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test55 genų susiję su Thickened helices
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Thickened helices. 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 |
|---|---|---|
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Visada | 4 ligose |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Visada | 1 ligoje |
| FBN1fibrillin 1 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Visada | 4 ligose |
| MAP2K1mitogen-activated protein kinase kinase 1 | Visada | 2 ligose |
| MAP2K2mitogen-activated protein kinase kinase 2 | Visada | 2 ligose |
| NBNnibrin | Visada | 1 ligoje |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Visada | 2 ligose |
| TCF4transcription factor 4 | Visada | 2 ligose |
| CBLCbl proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| MRASmuscle RAS oncogene homolog | Labai dažnai (80–99%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Labai dažnai (80–99%) | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 2 ligose |
| RASA2RAS p21 protein activator 2 | Labai dažnai (80–99%) | 1 ligoje |
| RB1RB transcriptional corepressor 1 | Labai dažnai (80–99%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Labai dažnai (80–99%) | 1 ligoje |
| RRASRAS related | Labai dažnai (80–99%) | 1 ligoje |
| RRAS2RAS related 2 | Labai dažnai (80–99%) | 1 ligoje |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| AFF4ALF transcription elongation factor 4 | Dažnai (30–79%) | 1 ligoje |
| CDH2cadherin 2 | Dažnai (30–79%) | 1 ligoje |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Dažnai (30–79%) | 1 ligoje |
| GDF11growth differentiation factor 11 | Dažnai (30–79%) | 1 ligoje |
| HYAL2hyaluronidase 2 | Dažnai (30–79%) | 1 ligoje |
| SEPHS1selenophosphate synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Dažnai (30–79%) | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Kartais (5–29%) | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Kartais (5–29%) | 1 ligoje |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Kartais (5–29%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Kartais (5–29%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Kartais (5–29%) | 1 ligoje |
Rodyti dar 15 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PGAP3post-GPI attachment to proteins phospholipase 3 | Kartais (5–29%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Kartais (5–29%) | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | 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 |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Kartais (5–29%) | 1 ligoje |
| XYLT2xylosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| SMSspermine synthase | Retai (1–4 %) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Neužfiksuota | 1 ligoje |
| PBX1PBX homeobox 1 | Neužfiksuota | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | 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.
Platesni požymiai
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.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
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