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Egenskap
Thickened helices
Increased thickness of the helix of the ear.
Sammendrag
- Også kalt
- Thick helix
- Kroppssystem
- Abnormality of the ear
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/thickened-helices.json"
page <- fromJSON(url)
page$trait$nameThickened helicesHP:0000391
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Les genene knyttet til Thickened helices, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt 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 →
Les genene knyttet til Thickened helices, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test55 gener knyttet til Thickened helices
Endringer i disse genene forårsaker sjeldne tilstander der Thickened helices forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 4 tilstander |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Alltid | I 1 tilstand |
| FBN1fibrillin 1 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Alltid | I 4 tilstander |
| MAP2K1mitogen-activated protein kinase kinase 1 | Alltid | I 2 tilstander |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 2 tilstander |
| NBNnibrin | Alltid | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Alltid | I 2 tilstander |
| TCF4transcription factor 4 | Alltid | I 2 tilstander |
| CBLCbl proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Svært ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Svært ofte (80–99 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| RASA2RAS p21 protein activator 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RB1RB transcriptional corepressor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RRASRAS related | Svært ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 1 tilstand |
| CDH2cadherin 2 | Ofte (30–79 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Ofte (30–79 %) | I 1 tilstand |
| GDF11growth differentiation factor 11 | Ofte (30–79 %) | I 1 tilstand |
| HYAL2hyaluronidase 2 | Ofte (30–79 %) | I 1 tilstand |
| SEPHS1selenophosphate synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Ofte (30–79 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Noen ganger (5–29 %) | I 1 tilstand |
Vis 15 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| PGAP3post-GPI attachment to proteins phospholipase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Noen ganger (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Noen ganger (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Noen ganger (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Noen ganger (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Noen ganger (5–29 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Noen ganger (5–29 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Sjelden (1–4%) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ikke registrert | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registrert | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.19-9814e911.
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