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Kirjaudu sisäänKysySekvensoi genomisi↗
Piirre
Abnormal myelination
Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.
Yhteenveto
- Elimistön järjestelmä
- Abnormality of the nervous system
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Tämä sivu datana
Lisää sivun osoitteen perään .json tai pyydä application/json-muotoa, niin saat sivun JSON-muodossa.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-myelination.json"
page <- fromJSON(url)
page$trait$nameAbnormal myelinationHP:0012447
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Lue Abnormal myelination-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test30 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.
- Epilepsy (Full Panel)Reads 49 of these genesAARS1ACTL6BAP3B2ATP1A2ATP1A3ATP6V1AAbout this report →
- Familial Hemiplegic MigraineReads 3 of these genesATP1A2CACNA1ASCN1AAbout this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
Show 26 more reports
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- Orofaciodigital Syndrome Type 14Reads 1 of these genesC2CD3About this report →
- Hereditary Manganese Transporter DisordersReads 1 of these genesSLC30A10About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 2 of these genesCACNA1ACACNA1BAbout this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesLAMB1RAB3GAP2TMTC3About this report →
- 46,XX Differences of Sex DevelopmentReads 1 of these genesSOX3About this report →
- Hereditary Episodic AtaxiasReads 1 of these genesCACNA1AAbout this report →
- Surfactant Metabolism DysfunctionReads 1 of these genesMARS1About this report →
- Intellectual DisabilityReads 6 of these genesPGAP1CLTCCNKSR2NUS1SOX3SYNGAP1About this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesMARS1AARS1MORC2About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesATP1A3CACNA1AAbout this report →
- DNA Repair DiseaseReads 2 of these genesERCC6ERCC8About this report →
- Hypogonadotropic HypogonadismReads 2 of these genesRAB3GAP2SOX3About this report →
- Hereditary Optic NeuropathyReads 1 of these genesATP1A3About this report →
- Rare Hereditary Peripheral NeuropathiesReads 4 of these genesTFGMARS1AARS1MORC2About this report →
- Inherited Neurodegenerative DisordersReads 5 of these genesPLP1TFGAARS1ATP1A3CACNA1AAbout this report →
- Parkinson DiseaseReads 1 of these genesSYNJ1About this report →
- Cutis LaxaReads 1 of these genesATP6V1AAbout this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesPLP1TFGAbout this report →
- Other Inherited LeukodystrophiesReads 2 of these genesPLP1AARS1About this report →
- Congenital Disorders of GlycosylationReads 2 of these genesDHDDSNUS1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPLP1About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesSOX3About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesRAB3GAP2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesATP1A3About this report →
- Retinitis PigmentosaReads 1 of these genesDHDDSAbout this report →
Lue Abnormal myelination-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
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Tilaa Genome Test72 geeniä, jotka liittyvät piirteeseen Abnormal myelination
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Abnormal myelination esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| PLP1proteolipid protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TFGtrafficking from ER to golgi regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| BORCS5BLOC-1 related complex subunit 5 | Usein (30–79%) | 1 sairaudessa |
| C2CD3C2 domain containing 3 centriole elongation regulator | Usein (30–79%) | 1 sairaudessa |
| LAMB1laminin subunit beta 1 | Usein (30–79%) | 1 sairaudessa |
| MARS1methionyl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| NGLY1N-glycanase 1 | Usein (30–79%) | 1 sairaudessa |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Usein (30–79%) | 1 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Usein (30–79%) | 1 sairaudessa |
| SLC30A10solute carrier family 30 member 10 | Usein (30–79%) | 1 sairaudessa |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Usein (30–79%) | 1 sairaudessa |
| ZFRzinc finger RNA binding protein | Usein (30–79%) | 1 sairaudessa |
| AARS1alanyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| ACTL6Bactin like 6B | Joskus (5–29%) | 1 sairaudessa |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Joskus (5–29%) | 1 sairaudessa |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Joskus (5–29%) | 1 sairaudessa |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Joskus (5–29%) | 1 sairaudessa |
| ATP6V1AATPase H+ transporting V1 subunit A | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Joskus (5–29%) | 1 sairaudessa |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Joskus (5–29%) | 1 sairaudessa |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Joskus (5–29%) | 1 sairaudessa |
| CDK19cyclin dependent kinase 19 | Joskus (5–29%) | 1 sairaudessa |
| CELF2CUGBP Elav-like family member 2 | Joskus (5–29%) | 1 sairaudessa |
| CLTCclathrin heavy chain | Joskus (5–29%) | 1 sairaudessa |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Joskus (5–29%) | 1 sairaudessa |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Joskus (5–29%) | 1 sairaudessa |
| DALRD3DALR anticodon binding domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Joskus (5–29%) | 1 sairaudessa |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Joskus (5–29%) | 1 sairaudessa |
| DNM1dynamin 1 | Joskus (5–29%) | 1 sairaudessa |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Joskus (5–29%) | 1 sairaudessa |
| FBXO28F-box protein 28 | Joskus (5–29%) | 1 sairaudessa |
| FGF12fibroblast growth factor 12 | Joskus (5–29%) | 1 sairaudessa |
| FOXG1forkhead box G1 | Joskus (5–29%) | 1 sairaudessa |
| FZR1fizzy and cell division cycle 20 related 1 | Joskus (5–29%) | 1 sairaudessa |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Joskus (5–29%) | 1 sairaudessa |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Joskus (5–29%) | 1 sairaudessa |
Näytä 32 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Joskus (5–29%) | 1 sairaudessa |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Joskus (5–29%) | 1 sairaudessa |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Joskus (5–29%) | 1 sairaudessa |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Joskus (5–29%) | 1 sairaudessa |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Joskus (5–29%) | 1 sairaudessa |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Joskus (5–29%) | 1 sairaudessa |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Joskus (5–29%) | 1 sairaudessa |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Joskus (5–29%) | 1 sairaudessa |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Joskus (5–29%) | 1 sairaudessa |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Joskus (5–29%) | 1 sairaudessa |
| MORC2MORC family CW-type zinc finger 2 | Joskus (5–29%) | 1 sairaudessa |
| NECAP1NECAP endocytosis associated 1 | Joskus (5–29%) | 1 sairaudessa |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Joskus (5–29%) | 1 sairaudessa |
| PACS2phosphofurin acidic cluster sorting protein 2 | Joskus (5–29%) | 1 sairaudessa |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Joskus (5–29%) | 1 sairaudessa |
| SLC13A5solute carrier family 13 member 5 | Joskus (5–29%) | 1 sairaudessa |
| SLC1A2solute carrier family 1 member 2 | Joskus (5–29%) | 1 sairaudessa |
| SLC38A3solute carrier family 38 member 3 | Joskus (5–29%) | 1 sairaudessa |
| SOX3SRY-box transcription factor 3 | Joskus (5–29%) | 1 sairaudessa |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SYNJ1synaptojanin 1 | Joskus (5–29%) | 1 sairaudessa |
| SZT2SZT2 subunit of KICSTOR complex | Joskus (5–29%) | 1 sairaudessa |
| TRAK1trafficking kinesin protein 1 | Joskus (5–29%) | 1 sairaudessa |
| UBA5ubiquitin like modifier activating enzyme 5 | Joskus (5–29%) | 1 sairaudessa |
| UFSP2UFM1 specific peptidase 2 | Joskus (5–29%) | 1 sairaudessa |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Joskus (5–29%) | 1 sairaudessa |
| ZNF699zinc finger protein 699 | Joskus (5–29%) | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.18-8b139e39.
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
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