AtlasTræk
Abnormal cortical gyration
An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.
Resumé
- Også kaldet
- Abnormal gyration, Cerebral gyral anomalies
- Kropssystem
- Abnormality of the nervous system
AtlasDenne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-cortical-gyration.json"
page <- fromJSON(url)
page$trait$nameLæs de gener, der er knyttet til Abnormal cortical gyration, og resten af dit genom, med én test.
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Bestil min Genome Test23 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.
- Congenital Muscular DystrophiesReads 14 of these genesB3GALNT2B4GAT1CRPPADAG1FKRPFKTNAbout this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- COL4A1-Related DisorderReads 1 of these genesCOL4A1About this report →
- DesmosterolosisReads 1 of these genesDHCR24About this report →
Show 19 more reports
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Congenital Disorders of GlycosylationReads 9 of these genesCRPPADAG1FKRPFKTNPOMGNT1POMGNT2About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 4 of these genesSEPSECSTSEN15TSEN2TSEN54About this report →
- Limb-Girdle Muscular DystrophyReads 5 of these genesDAG1FKRPFKTNPOMGNT1LAMA2About this report →
- Spinal Muscular AtrophyReads 4 of these genesSEPSECSTSEN15TSEN2TSEN54About this report →
- Familial Hemiplegic MigraineReads 1 of these genesATP1A2About this report →
- Fraser SyndromeReads 1 of these genesFRAS1About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Inherited Neurodegenerative DisordersReads 7 of these genesASCC1CAMTA1ATXN2SEPSECSTSEN15TSEN2About this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesPHGDHAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesCAMTA1ATXN2About this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesCEP152About this report →
- Retinitis PigmentosaReads 2 of these genesPOMGNT1OFD1About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesGLI2About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesOFD1About this report →
- Dilated CardiomyopathyReads 1 of these genesFKTNAbout this report →
- Intellectual DisabilityReads 2 of these genesUSP9XTBL1XR1About this report →
- Epilepsy (Full Panel)Reads 1 of these genesATP1A2About this report →
Læs de gener, der er knyttet til Abnormal cortical gyration, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test40 gener knyttet til Abnormal cortical gyration
Ændringer i disse gener forårsager sjældne tilstande, hvor Abnormal cortical gyration ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ASCC1activating signal cointegrator 1 complex subunit 1 | Altid | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Altid | I 1 tilstand |
| MED16mediator complex subunit 16 | Altid | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Altid | I 2 tilstande |
| TM2D3TM2 domain containing 3 | Altid | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Meget ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FKRPfukutin related protein | Meget ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Meget ofte (80–99 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Meget ofte (80–99 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Meget ofte (80–99 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Ofte (30–79 %) | I 2 tilstande |
| ATXN2ataxin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Nogle gange (5–29 %) | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Nogle gange (5–29 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Nogle gange (5–29 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Ikke registreret | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ikke registreret | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ikke registreret | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ikke registreret | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Ikke registreret | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.19-9814e911.
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