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Egenskap
EEG abnormality
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Sammanfattning
- Även kallad
- Abnormal EEG, Abnormal electroencephalogram, EEG abnormalities, Electroencephalogram abnormal, Electroencephalogram abnormalities
- Kroppssystem
- Abnormality of the nervous system
AtlasVem vi hjälperVår vetenskapProdukterResultat
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Den här sidan som data
Lägg till .json i sidans adress, eller begär application/json, för att läsa den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/eeg-abnormality.json"
page <- fromJSON(url)
page$trait$nameEEG abnormalityHP:0002353
AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
Läs generna kopplade till EEG abnormality, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test85 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 60 of these genesCNKSR2CUX2DENND5AGRIN1HNRNPUKCNMA1About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 13 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Other Inherited LeukodystrophiesReads 19 of these genesAARS2PEX1PEX10PEX11BPEX12PEX13About this report →
- Hereditary Episodic AtaxiasReads 4 of these genesCACNA1AKCNA1SCN2ASLC1A3About this report →
Show 81 more reports
- Hereditary Optic NeuropathyReads 7 of these genesMT-ND1MT-ND4MT-ND5MT-ND6AFG3L2DNM1LAbout this report →
- Intellectual DisabilityReads 28 of these genesAHDC1CNKSR2DEAF1GRIN1MED23NUS1About this report →
- Familial Hemiplegic MigraineReads 3 of these genesATP1A2CACNA1ASCN1AAbout this report →
- Congenital Muscular DystrophiesReads 9 of these genesB3GALNT2CRPPAFKRPFKTNGMPPBLARGE1About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Noonan SyndromeReads 6 of these genesHRASKRASNRASBRAFMAP2K1MAP2K2About this report →
- DNA Repair DiseaseReads 8 of these genesERCC1DDB2ERCC2ERCC3ERCC4ERCC5About this report →
- Leigh SyndromeReads 9 of these genesMT-ND1MT-ND4MT-ND5MT-ND6GFM1MFFAbout this report →
- Neuronal Ceroid LipofuscinosisReads 4 of these genesCLCN6CLN8MFSD8PPT1About this report →
- Lysosomal Storage DiseaseReads 8 of these genesCLCN6MCOLN1NEU1GALCPSAPCLN8About this report →
- Congenital Disorders of GlycosylationReads 10 of these genesNUS1CRPPAFKRPFKTNGMPPBPOMGNT1About this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 2 of these genesTREM2TYROBPAbout this report →
- Angelman SyndromeReads 1 of these genesUBE3AAbout this report →
- Birt-Hogg-Dubé SyndromeReads 1 of these genesFLCNAbout this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Genetic Prion Disease (incl. Fatal Familial Insomnia)Reads 1 of these genesPRNPAbout this report →
- Krabbe DiseaseReads 1 of these genesGALCAbout this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Limb-Girdle Muscular DystrophyReads 5 of these genesFKRPFKTNGMPPBPOMGNT1TRAPPC11About this report →
- Primary Mitochondrial DiseaseReads 9 of these genesAARS2COX16TRIT1AFG3L2GFM1GFM2About this report →
- Hypertrophic CardiomyopathyReads 6 of these genesHRASKRASNRASBRAFMAP2K1MAP2K2About this report →
- Age-Related Macular DegenerationReads 1 of these genesMFSD8About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Dent Disease and Lowe SyndromeReads 1 of these genesOCRLAbout this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- GPI Anchor Biosynthesis DefectsReads 3 of these genesGPAA1PIGPPIGQAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 4 of these genesPRRT2SLC2A1PNKPATP1A3About this report →
- Autism Spectrum DisorderReads 2 of these genesNLGN3NLGN4XAbout this report →
- Urea Cycle DisorderReads 2 of these genesARG1ASLAbout this report →
- Hereditary Fructose Intolerance & Gluconeogenesis DefectsReads 1 of these genesPCK1About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRMRPAbout this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesMCOLN1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesERCC1ERCC2ERCC5About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 3 of these genesCACNA1AAFG3L2ATP1A3About this report →
- Homocystinuria & Cobalamin DisordersReads 2 of these genesCBSMTHFRAbout this report →
- Alzheimer diseaseReads 1 of these genesTREM2About this report →
- Autoimmune DiseaseReads 2 of these genesKRASUNC93B1About this report →
- Hereditary Congenital & Juvenile CataractReads 2 of these genesLSSMAFAbout this report →
- Cornelia de Lange SyndromeReads 1 of these genesSMC1AAbout this report →
- Hereditary Periodic Fever SyndromesReads 1 of these genesNLRP3About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesACOX1About this report →
- Systemic Lupus ErythematosusReads 1 of these genesUNC93B1About this report →
- Vanishing White Matter DiseaseReads 1 of these genesAARS2About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesWWOXPEX6PNKPAbout this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesNEU1About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Classic Organic AciduriasReads 1 of these genesHMGCLAbout this report →
- Nephrotic SyndromeReads 2 of these genesNUP107NUP133About this report →
- Diabetes MellitusReads 2 of these genesEIF2S3MT-TL1About this report →
- Oculocutaneous AlbinismReads 1 of these genesOCA2About this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesDPYDAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesSNRPNAbout this report →
- Kidney CancerReads 1 of these genesFLCNAbout this report →
- Marfan Like SyndromesReads 1 of these genesSKIAbout this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 1 of these genesDDCAbout this report →
- Hermansky-Pudlak SyndromeReads 1 of these genesAP3D1About this report →
- Urinary and Renal System TumourReads 1 of these genesFLCNAbout this report →
- Dilated CardiomyopathyReads 2 of these genesFKTNPRDM16About this report →
- Frontotemporal DementiaReads 1 of these genesTBK1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesNOTCH1About this report →
- Female InfertilityReads 2 of these genesNUP107LARS2About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesCTNNA2About this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 1 of these genesHMGCLAbout this report →
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixReads 1 of these genesLSSAbout this report →
- Amelogenesis ImperfectaReads 1 of these genesITGB6About this report →
- Ectodermal DysplasiasReads 1 of these genesNECTIN1About this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesMCOLN1About this report →
- Retinitis PigmentosaReads 2 of these genesPOMGNT1DHDDSAbout this report →
- Syndromic CraniosynostosisReads 1 of these genesSKIAbout this report →
- Other Inborn Errors of ImmunityReads 3 of these genesKRASRMRPRELAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesAIMP1About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesPLCH1About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesGMPPBAbout this report →
- VitreoretinopathyReads 1 of these genesNDPAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesTBK1About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesSNRPNAbout this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesFARS2About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesSLC12A6About this report →
- Hearing Loss and DeafnessReads 1 of these genesTBC1D24About this report →
Läs generna kopplade till EEG abnormality, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test308 gener kopplade till EEG abnormality
Förändringar i dessa gener orsakar sällsynta tillstånd där EEG abnormality förekommer. De flesta med denna egenskap har inget av dessa tillstånd, och en gen på listan säger ingenting om någons eget genom.
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tillstånd |
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 2 tillstånd |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alltid | I 1 tillstånd |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Alltid | I 1 tillstånd |
| CCDC47coiled-coil domain containing 47 | Alltid | I 1 tillstånd |
| CEP85Lcentrosomal protein 85L | Alltid | I 1 tillstånd |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Alltid | I 1 tillstånd |
| COG3component of oligomeric golgi complex 3 | Alltid | I 1 tillstånd |
| COX16cytochrome c oxidase assembly factor COX16 | Alltid | I 1 tillstånd |
| CTNNA2catenin alpha 2 | Alltid | I 1 tillstånd |
| CUX2cut like homeobox 2 | Alltid | I 2 tillstånd |
| DEAF1DEAF1 transcription factor | Alltid | I 1 tillstånd |
| DENND5ADENN domain containing 5A | Alltid | I 1 tillstånd |
| DHPSdeoxyhypusine synthase | Alltid | I 1 tillstånd |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Alltid | I 1 tillstånd |
| FAM177A1family with sequence similarity 177 member A1 | Alltid | I 1 tillstånd |
| GNB2G protein subunit beta 2 | Alltid | I 1 tillstånd |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alltid | I 3 tillstånd |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Alltid | I 1 tillstånd |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tillstånd |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Alltid | I 1 tillstånd |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tillstånd |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Alltid | I 1 tillstånd |
| MED23mediator complex subunit 23 | Alltid | I 1 tillstånd |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Alltid | I 1 tillstånd |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tillstånd |
| PDE2Aphosphodiesterase 2A | Alltid | I 1 tillstånd |
| RTTNrotatin | Alltid | I 1 tillstånd |
| SLC1A2solute carrier family 1 member 2 | Alltid | I 1 tillstånd |
| SMC1Astructural maintenance of chromosomes 1A | Alltid | I 2 tillstånd |
| SPTBN4spectrin beta, non-erythrocytic 4 | Alltid | I 1 tillstånd |
| TMEM63Btransmembrane protein 63B | Alltid | I 1 tillstånd |
| TOP2BDNA topoisomerase II beta | Alltid | I 1 tillstånd |
| TRIT1tRNA isopentenyltransferase 1 | Alltid | I 1 tillstånd |
| UBE3Aubiquitin protein ligase E3A | Alltid | I 5 tillstånd |
| VAMP2vesicle associated membrane protein 2 | Alltid | I 1 tillstånd |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alltid | I 2 tillstånd |
| WWOXWW domain containing oxidoreductase | Alltid | I 2 tillstånd |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Alltid | I 1 tillstånd |
| ABAT4-aminobutyrate aminotransferase | Mycket ofta (80–99 %) | I 1 tillstånd |
Visa 268 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| ACOX1acyl-CoA oxidase 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| ADRA2Badrenoceptor alpha 2B | Mycket ofta (80–99 %) | I 1 tillstånd |
| AFG2AAAA ATPase AFG2A | Mycket ofta (80–99 %) | I 2 tillstånd |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Mycket ofta (80–99 %) | I 4 tillstånd |
| CASZ1castor zinc finger 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| CDKL5cyclin dependent kinase like 5 | Mycket ofta (80–99 %) | I 2 tillstånd |
| CLTRNcollectrin, amino acid transport regulator | Mycket ofta (80–99 %) | I 1 tillstånd |
| CNTN2contactin 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| CNTNAP2contactin associated protein 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| CPLX1complexin 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| CRPPACDP-L-ribitol pyrophosphorylase A | Mycket ofta (80–99 %) | I 1 tillstånd |
| CTBP1C-terminal binding protein 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| CTNND2catenin delta 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| DDB2damage specific DNA binding protein 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Mycket ofta (80–99 %) | I 1 tillstånd |
| EPG5ectopic P-granules 5 autophagy tethering factor | Mycket ofta (80–99 %) | I 1 tillstånd |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Mycket ofta (80–99 %) | I 1 tillstånd |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Mycket ofta (80–99 %) | I 1 tillstånd |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Mycket ofta (80–99 %) | I 1 tillstånd |
| ERCC5ERCC excision repair 5, endonuclease | Mycket ofta (80–99 %) | I 1 tillstånd |
| FGFRL1fibroblast growth factor receptor like 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| FKRPfukutin related protein | Mycket ofta (80–99 %) | I 1 tillstånd |
| FKTNfukutin | Mycket ofta (80–99 %) | I 2 tillstånd |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Mycket ofta (80–99 %) | I 1 tillstånd |
| GMPPBGDP-mannose pyrophosphorylase B | Mycket ofta (80–99 %) | I 1 tillstånd |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| HIC1HIC ZBTB transcriptional repressor 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| HRASHRas proto-oncogene, GTPase | Mycket ofta (80–99 %) | I 1 tillstånd |
| HSPG2heparan sulfate proteoglycan 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| KRASKRas proto-oncogene, GTPase | Mycket ofta (80–99 %) | I 2 tillstånd |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| LUZP1leucine zipper protein 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MADDMAP kinase activating death domain | Mycket ofta (80–99 %) | I 2 tillstånd |
| MARCHF6membrane associated ring-CH-type finger 6 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MECP2methyl-CpG binding protein 2 | Mycket ofta (80–99 %) | I 5 tillstånd |
| MMP23Bmatrix metallopeptidase 23B | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Mycket ofta (80–99 %) | I 1 tillstånd |
| NRASNRAS proto-oncogene, GTPase | Mycket ofta (80–99 %) | I 1 tillstånd |
| NSD2nuclear receptor binding SET domain protein 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| NTNG1netrin G1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| OCA2OCA2 melanosomal transmembrane protein | Mycket ofta (80–99 %) | I 1 tillstånd |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PDPNpodoplanin | Mycket ofta (80–99 %) | I 1 tillstånd |
| PEX1peroxisomal biogenesis factor 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PEX10peroxisomal biogenesis factor 10 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PEX11Bperoxisomal biogenesis factor 11 beta | Mycket ofta (80–99 %) | I 2 tillstånd |
| PEX12peroxisomal biogenesis factor 12 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PEX13peroxisomal biogenesis factor 13 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PEX14peroxisomal biogenesis factor 14 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PEX16peroxisomal biogenesis factor 16 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PEX19peroxisomal biogenesis factor 19 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PEX2peroxisomal biogenesis factor 2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PEX26peroxisomal biogenesis factor 26 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PEX3peroxisomal biogenesis factor 3 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PEX5peroxisomal biogenesis factor 5 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PEX6peroxisomal biogenesis factor 6 | Mycket ofta (80–99 %) | I 2 tillstånd |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Mycket ofta (80–99 %) | I 2 tillstånd |
| POMT1protein O-mannosyltransferase 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| POMT2protein O-mannosyltransferase 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PPFIA3PPFI scaffold protein A3 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PRDM16PR/SET domain 16 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PRKCZprotein kinase C zeta | Mycket ofta (80–99 %) | I 1 tillstånd |
| PRRT2proline rich transmembrane protein 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| REREarginine-glutamic acid dipeptide repeats | Mycket ofta (80–99 %) | I 1 tillstånd |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Mycket ofta (80–99 %) | I 1 tillstånd |
| ROGDIrogdi atypical leucine zipper | Mycket ofta (80–99 %) | I 1 tillstånd |
| SAMD12sterile alpha motif domain containing 12 | Mycket ofta (80–99 %) | I 1 tillstånd |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| SKISKI proto-oncogene | Mycket ofta (80–99 %) | I 1 tillstånd |
| SLC12A6solute carrier family 12 member 6 | Mycket ofta (80–99 %) | I 1 tillstånd |
| SLC13A5solute carrier family 13 member 5 | Mycket ofta (80–99 %) | I 1 tillstånd |
| SLC2A1solute carrier family 2 member 1 | Mycket ofta (80–99 %) | I 3 tillstånd |
| SLC6A19solute carrier family 6 member 19 | Mycket ofta (80–99 %) | I 1 tillstånd |
| SPENspen family transcriptional repressor | Mycket ofta (80–99 %) | I 1 tillstånd |
| SYT1synaptotagmin 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| TBC1D24TBC1 domain family member 24 | Mycket ofta (80–99 %) | I 1 tillstånd |
| TBK1TANK binding kinase 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| TICAM1TIR domain containing adaptor molecule 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| TIMM50translocase of inner mitochondrial membrane 50 | Mycket ofta (80–99 %) | I 1 tillstånd |
| TLR3toll like receptor 3 | Mycket ofta (80–99 %) | I 2 tillstånd |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Mycket ofta (80–99 %) | I 1 tillstånd |
| TRAF3TNF receptor associated factor 3 | Mycket ofta (80–99 %) | I 1 tillstånd |
| UBE4Bubiquitination factor E4B | Mycket ofta (80–99 %) | I 1 tillstånd |
| UNC93B1unc-93B1 regulator of TLR signaling | Mycket ofta (80–99 %) | I 1 tillstånd |
| XPAXPA, DNA damage recognition and repair factor | Mycket ofta (80–99 %) | I 1 tillstånd |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Mycket ofta (80–99 %) | I 1 tillstånd |
| YEATS2YEATS domain containing 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Mycket ofta (80–99 %) | I 1 tillstånd |
| ZNHIT3zinc finger HIT-type containing 3 | Mycket ofta (80–99 %) | I 1 tillstånd |
| ABCA5ATP binding cassette subfamily A member 5 | Ofta (30–79 %) | I 1 tillstånd |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Ofta (30–79 %) | I 1 tillstånd |
| AHSGalpha 2-HS glycoprotein | Ofta (30–79 %) | I 1 tillstånd |
| ANKRD17ankyrin repeat domain 17 | Ofta (30–79 %) | I 1 tillstånd |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ofta (30–79 %) | I 1 tillstånd |
| ARG1arginase 1 | Ofta (30–79 %) | I 1 tillstånd |
| ARXaristaless related homeobox | Ofta (30–79 %) | I 3 tillstånd |
| ASLargininosuccinate lyase | Ofta (30–79 %) | I 1 tillstånd |
| ATP10AATPase phospholipid transporting 10A (putative) | Ofta (30–79 %) | I 1 tillstånd |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofta (30–79 %) | I 1 tillstånd |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ofta (30–79 %) | I 2 tillstånd |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofta (30–79 %) | I 1 tillstånd |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Ofta (30–79 %) | I 1 tillstånd |
| CHD2chromodomain helicase DNA binding protein 2 | Ofta (30–79 %) | I 1 tillstånd |
| CLCN6Cl-/H+ antiporter 6 | Ofta (30–79 %) | I 1 tillstånd |
| CREBBPCREB binding lysine acetyltransferase | Ofta (30–79 %) | I 3 tillstånd |
| DMXL2Dmx like 2 | Ofta (30–79 %) | I 1 tillstånd |
| DNM1dynamin 1 | Ofta (30–79 %) | I 1 tillstånd |
| DNM1Ldynamin 1L | Ofta (30–79 %) | I 1 tillstånd |
| DPYDdihydropyrimidine dehydrogenase | Ofta (30–79 %) | I 1 tillstånd |
| FOXG1forkhead box G1 | Ofta (30–79 %) | I 1 tillstånd |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Ofta (30–79 %) | I 1 tillstånd |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Ofta (30–79 %) | I 1 tillstånd |
| GFM1G elongation factor mitochondrial 1 | Ofta (30–79 %) | I 1 tillstånd |
| GNAO1G protein subunit alpha o1 | Ofta (30–79 %) | I 1 tillstånd |
| GNB1G protein subunit beta 1 | Ofta (30–79 %) | I 1 tillstånd |
| GON7GON7 subunit of KEOPS complex | Ofta (30–79 %) | I 1 tillstånd |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Ofta (30–79 %) | I 1 tillstånd |
| GRM7glutamate metabotropic receptor 7 | Ofta (30–79 %) | I 1 tillstånd |
| GTF3C3general transcription factor IIIC subunit 3 | Ofta (30–79 %) | I 1 tillstånd |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Ofta (30–79 %) | I 2 tillstånd |
| ITGB6integrin subunit beta 6 | Ofta (30–79 %) | I 1 tillstånd |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ofta (30–79 %) | I 1 tillstånd |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ofta (30–79 %) | I 1 tillstånd |
| LAGE3L antigen family member 3 | Ofta (30–79 %) | I 1 tillstånd |
| LGI1leucine rich glioma inactivated 1 | Ofta (30–79 %) | I 1 tillstånd |
| LSSlanosterol synthase | Ofta (30–79 %) | I 1 tillstånd |
| MAFMAF bZIP transcription factor | Ofta (30–79 %) | I 1 tillstånd |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofta (30–79 %) | I 1 tillstånd |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofta (30–79 %) | I 1 tillstånd |
| MAPK10mitogen-activated protein kinase 10 | Ofta (30–79 %) | I 1 tillstånd |
| MARK2microtubule affinity regulating kinase 2 | Ofta (30–79 %) | I 1 tillstånd |
| MCOLN1mucolipin TRP cation channel 1 | Ofta (30–79 %) | I 1 tillstånd |
| MFFmitochondrial fission factor | Ofta (30–79 %) | I 1 tillstånd |
| MSL2MSL complex subunit 2 | Ofta (30–79 %) | I 1 tillstånd |
| NAXDNAD(P)HX dehydratase | Ofta (30–79 %) | I 1 tillstånd |
| NEU1neuraminidase 1 | Ofta (30–79 %) | I 1 tillstånd |
| NEUROD2neuronal differentiation 2 | Ofta (30–79 %) | I 1 tillstånd |
| NGLY1N-glycanase 1 | Ofta (30–79 %) | I 1 tillstånd |
| NLGN3neuroligin 3 | Ofta (30–79 %) | I 2 tillstånd |
| NLGN4Xneuroligin 4 X-linked | Ofta (30–79 %) | I 2 tillstånd |
| NOTCH2NLCnotch 2 N-terminal like C | Ofta (30–79 %) | I 1 tillstånd |
| NOTCH3notch receptor 3 | Ofta (30–79 %) | I 1 tillstånd |
| NTNG2netrin G2 | Ofta (30–79 %) | I 1 tillstånd |
| NUP107nucleoporin 107 | Ofta (30–79 %) | I 1 tillstånd |
| NUP133nucleoporin 133 | Ofta (30–79 %) | I 1 tillstånd |
| NUP188nucleoporin 188 | Ofta (30–79 %) | I 1 tillstånd |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofta (30–79 %) | I 1 tillstånd |
| OSGEPO-sialoglycoprotein endopeptidase | Ofta (30–79 %) | I 1 tillstånd |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ofta (30–79 %) | I 1 tillstånd |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Ofta (30–79 %) | I 1 tillstånd |
| PNKPpolynucleotide kinase 3'-phosphatase | Ofta (30–79 %) | I 1 tillstånd |
| PRUNE1prune exopolyphosphatase 1 | Ofta (30–79 %) | I 1 tillstånd |
| PTRH2peptidyl-tRNA hydrolase 2 | Ofta (30–79 %) | I 1 tillstånd |
| PURApurine rich element binding protein A | Ofta (30–79 %) | I 1 tillstånd |
| RAI1retinoic acid induced 1 | Ofta (30–79 %) | I 4 tillstånd |
| RCC1regulator of chromosome condensation 1 | Ofta (30–79 %) | I 1 tillstånd |
| RHOBTB2Rho related BTB domain containing 2 | Ofta (30–79 %) | I 2 tillstånd |
| SATB1SATB homeobox 1 | Ofta (30–79 %) | I 2 tillstånd |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofta (30–79 %) | I 1 tillstånd |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofta (30–79 %) | I 2 tillstånd |
| SIK1salt inducible kinase 1 | Ofta (30–79 %) | I 1 tillstånd |
| SLC25A22solute carrier family 25 member 22 | Ofta (30–79 %) | I 1 tillstånd |
| SLC32A1solute carrier family 32 member 1 | Ofta (30–79 %) | I 1 tillstånd |
| SLC9A6solute carrier family 9 member A6 | Ofta (30–79 %) | I 1 tillstånd |
| SNF8SNF8 subunit of ESCRT-II | Ofta (30–79 %) | I 1 tillstånd |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ofta (30–79 %) | I 2 tillstånd |
| SPTBN1spectrin beta, non-erythrocytic 1 | Ofta (30–79 %) | I 1 tillstånd |
| TET3tet methylcytosine dioxygenase 3 | Ofta (30–79 %) | I 1 tillstånd |
| TP53RKTP53 regulating kinase | Ofta (30–79 %) | I 1 tillstånd |
| TPRKBTP53RK binding protein | Ofta (30–79 %) | I 1 tillstånd |
| TRIM8tripartite motif containing 8 | Ofta (30–79 %) | I 1 tillstånd |
| UBTFupstream binding transcription factor | Ofta (30–79 %) | I 1 tillstånd |
| WDR73WD repeat domain 73 | Ofta (30–79 %) | I 1 tillstånd |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Ofta (30–79 %) | I 1 tillstånd |
| ZEB2zinc finger E-box binding homeobox 2 | Ofta (30–79 %) | I 2 tillstånd |
| ANKRD11ankyrin repeat domain 11 | Ibland (5–29 %) | I 1 tillstånd |
| ARHGAP31Rho GTPase activating protein 31 | Ibland (5–29 %) | I 1 tillstånd |
| BCL11ABCL11 transcription factor A | Ibland (5–29 %) | I 1 tillstånd |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Ibland (5–29 %) | I 1 tillstånd |
| CBScystathionine beta-synthase | Ibland (5–29 %) | I 1 tillstånd |
| CUL4Bcullin 4B | Ibland (5–29 %) | I 1 tillstånd |
| DDCdopa decarboxylase | Ibland (5–29 %) | I 1 tillstånd |
| DLL4delta like canonical Notch ligand 4 | Ibland (5–29 %) | I 1 tillstånd |
| DOCK6dedicator of cytokinesis 6 | Ibland (5–29 %) | I 1 tillstånd |
| EMC1ER membrane protein complex subunit 1 | Ibland (5–29 %) | I 1 tillstånd |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Ibland (5–29 %) | I 1 tillstånd |
| FDXRferredoxin reductase | Ibland (5–29 %) | I 1 tillstånd |
| FOXP1forkhead box P1 | Ibland (5–29 %) | I 1 tillstånd |
| GALCgalactosylceramidase | Ibland (5–29 %) | I 2 tillstånd |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ibland (5–29 %) | I 1 tillstånd |
| KDM6Alysine demethylase 6A | Ibland (5–29 %) | I 1 tillstånd |
| KMT2Dlysine methyltransferase 2D | Ibland (5–29 %) | I 1 tillstånd |
| MED13Lmediator complex subunit 13L | Ibland (5–29 %) | I 1 tillstånd |
| NDPnorrin cystine knot growth factor NDP | Ibland (5–29 %) | I 1 tillstånd |
| NECTIN1nectin cell adhesion molecule 1 | Ibland (5–29 %) | I 1 tillstånd |
| NLRP3NLR family pyrin domain containing 3 | Ibland (5–29 %) | I 1 tillstånd |
| NOTCH1notch receptor 1 | Ibland (5–29 %) | I 1 tillstånd |
| PLCH1phospholipase C eta 1 | Ibland (5–29 %) | I 1 tillstånd |
| POGZpogo transposable element derived with ZNF domain | Ibland (5–29 %) | I 1 tillstånd |
| PRNPprion protein (Kanno blood group) | Ibland (5–29 %) | I 1 tillstånd |
| PSAPprosaposin | Ibland (5–29 %) | I 1 tillstånd |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Ibland (5–29 %) | I 1 tillstånd |
| RELREL proto-oncogene, NF-kB subunit | Ibland (5–29 %) | I 1 tillstånd |
| SLC44A1solute carrier family 44 member 1 | Ibland (5–29 %) | I 1 tillstånd |
| SMSspermine synthase | Ibland (5–29 %) | I 1 tillstånd |
| WDR62WD repeat domain 62 | Ibland (5–29 %) | I 1 tillstånd |
| XPO1exportin 1 | Ibland (5–29 %) | I 1 tillstånd |
| ANTXR1ANTXR cell adhesion molecule 1 | Sällan (1–4%) | I 1 tillstånd |
| EP300EP300 lysine acetyltransferase | Sällan (1–4%) | I 2 tillstånd |
| RUSC2RUN and SH3 domain containing 2 | Sällan (1–4%) | I 1 tillstånd |
| TRAPPC11trafficking protein particle complex subunit 11 | Sällan (1–4%) | I 1 tillstånd |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Inte registrerat | I 1 tillstånd |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Inte registrerat | I 1 tillstånd |
| APOL2apolipoprotein L2 | Inte registrerat | I 1 tillstånd |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Inte registrerat | I 1 tillstånd |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Inte registrerat | I 1 tillstånd |
| CHI3L1chitinase 3 like 1 | Inte registrerat | I 1 tillstånd |
| CLN8CLN8 transmembrane ER and ERGIC protein | Inte registrerat | I 2 tillstånd |
| DAOAD-amino acid oxidase activator | Inte registrerat | I 1 tillstånd |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Inte registrerat | I 1 tillstånd |
| DISC2disrupted in schizophrenia 2 | Inte registrerat | I 1 tillstånd |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Inte registrerat | I 1 tillstånd |
| DRD3dopamine receptor D3 | Inte registrerat | I 1 tillstånd |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Inte registrerat | I 1 tillstånd |
| FGF12fibroblast growth factor 12 | Inte registrerat | I 1 tillstånd |
| FLCNfolliculin | Inte registrerat | I 1 tillstånd |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Inte registrerat | I 1 tillstånd |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Inte registrerat | I 1 tillstånd |
| HTR2A5-hydroxytryptamine receptor 2A | Inte registrerat | I 1 tillstånd |
| IREB2iron responsive element binding protein 2 | Inte registrerat | I 1 tillstånd |
| LAMC3laminin subunit gamma 3 | Inte registrerat | I 1 tillstånd |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Inte registrerat | I 1 tillstånd |
| MFSD8major facilitator superfamily domain containing 8 | Inte registrerat | I 1 tillstånd |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Inte registrerat | I 1 tillstånd |
| MTHFRmethylenetetrahydrofolate reductase | Inte registrerat | I 1 tillstånd |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Inte registrerat | I 1 tillstånd |
| PCK1phosphoenolpyruvate carboxykinase 1 | Inte registrerat | I 1 tillstånd |
| PHF6PHD finger protein 6 | Inte registrerat | I 1 tillstånd |
| PPT1palmitoyl-protein thioesterase 1 | Inte registrerat | I 1 tillstånd |
| PRODHproline dehydrogenase 1 | Inte registrerat | I 1 tillstånd |
| RTN4Rreticulon 4 receptor | Inte registrerat | I 1 tillstånd |
| SLC1A3solute carrier family 1 member 3 | Inte registrerat | I 1 tillstånd |
| SNIP1Smad nuclear interacting protein 1 | Inte registrerat | I 1 tillstånd |
| SYN2synapsin II | Inte registrerat | I 1 tillstånd |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Inte registrerat | I 1 tillstånd |
| SZT2SZT2 subunit of KICSTOR complex | Inte registrerat | I 1 tillstånd |
| TREM2triggering receptor expressed on myeloid cells 2 | Inte registrerat | I 2 tillstånd |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Inte registrerat | I 1 tillstånd |
Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.
Mer specifika egenskaper
Bredare egenskaper
Varifrån informationen kommer
- Human Phenotype Ontology, version 2026-09-01: egenskapen, dess namn, definition och de gener som är kopplade till den. Läs mer på hpo.jax.org.
- Dataversion 2026.10.17-8666dff2.
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