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Egenskap
Jerking
Kliniskt namn: Myoclonus
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Sammanfattning
- Även kallad
- Myoclonic jerks
- Kroppssystem
- Abnormality of the nervous system
AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
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/myoclonus.json"
page <- fromJSON(url)
page$trait$nameJerkingHP:0001336
AtlasVem vi hjälperVår vetenskapProdukterResultat
Logga inFrågaSekvensera ditt genom↗
Läs generna kopplade till Jerking, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test101 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 115 of these genesATP6V0A1CERS1CLN8CNKSR2CNTN2CSTBAbout this report →
- Inherited Neurodegenerative DisordersReads 72 of these genesABCB7AFG3L2APTXCLN5CLN8DARS2About this report →
- Neuronal Ceroid LipofuscinosisReads 10 of these genesCLN5CLN8ATP13A2CLN6KCTD7CLN3About this report →
- GPI Anchor Biosynthesis DefectsReads 11 of these genesPIGAPGAP2PGAP3PIGLPIGOPIGPAbout this report →
Show 97 more reports
- Alzheimer diseaseReads 5 of these genesAPPPSEN1PSEN2TREM2APOEAbout this report →
- Lysosomal Storage DiseaseReads 17 of these genesCLN5CLN8PSAPASAH1NEU1AP5Z1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 33 of these genesCOQ2FARS2PDHA1PSAPSCO2SLC25A19About this report →
- Leigh SyndromeReads 17 of these genesFARS2PDHA1SCO2MT-ND1MT-ND4MT-ND5About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 12 of these genesAFG3L2ITPR1ATN1CACNA1ADAB1ATP1A3About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 12 of these genesSGCESLC2A1KCTD17TOR1ATAF1TSPOAP1About this report →
- Hereditary Optic NeuropathyReads 7 of these genesAFG3L2DNM1LMT-ND1MT-ND4MT-ND5MT-ND6About this report →
- Primary Mitochondrial DiseaseReads 22 of these genesAFG3L2CARS2COQ2FARS2PTCD3SCO2About this report →
- Parkinson DiseaseReads 7 of these genesATP13A2FBXO7SNCADNAJC6PLA2G6SYNJ1About this report →
- Familial Hemiplegic MigraineReads 3 of these genesCACNA1ASCN1AATP1A2About this report →
- Congenital Disorders of GlycosylationReads 16 of these genesCOG8PIGARFT1KCTD7PGM3DHDDSAbout this report →
- Hereditary Episodic AtaxiasReads 3 of these genesSCN2ACACNA1AKCNA1About this report →
- DOORS SyndromeReads 2 of these genesTBC1D24ATP6V1B2About this report →
- Neuroblastoma Predisposition (ALK and PHOX2B)Reads 2 of these genesALKPHOX2BAbout this report →
- Intellectual DisabilityReads 21 of these genesAHDC1CNKSR2GRIN1SEMA6BGRIN2BSCN2AAbout this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 3 of these genesAKT3MTORPIK3CAAbout this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 4 of these genesDDCTHPTSQDPRAbout this report →
- Disorders of Glycine & Serine MetabolismReads 3 of these genesGCSHPSAT1GLDCAbout this report →
- Other Inherited LeukodystrophiesReads 9 of these genesDARS2PSAPTREM2AARS1ADARGALCAbout this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 3 of these genesCACNA1BCACNA1AKMT2BAbout this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 2 of these genesTREM2TYROBPAbout this report →
- ADCY5-Related DyskinesiaReads 1 of these genesADCY5About this report →
- Angelman SyndromeReads 1 of these genesUBE3AAbout this report →
- Ataxia-TelangiectasiaReads 1 of these genesATMAbout this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- Congenital Central Hypoventilation SyndromeReads 1 of these genesPHOX2BAbout this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- Feingold Syndrome Type 1Reads 1 of these genesMYCNAbout this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- Genetic Prion Disease (incl. Fatal Familial Insomnia)Reads 1 of these genesPRNPAbout this report →
- HIBCH DeficiencyReads 1 of these genesHIBCHAbout this report →
- Huntington DiseaseReads 1 of these genesHTTAbout this report →
- Hyperekplexia 3 (SLC6A5)Reads 1 of these genesSLC6A5About this report →
- Jaberi-Elahi SyndromeReads 1 of these genesGTPBP2About this report →
- KIF5A-Related Amyotrophic Lateral SclerosisReads 1 of these genesKIF5AAbout this report →
- Krabbe DiseaseReads 1 of these genesGALCAbout this report →
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- POLR1C-Related DisorderReads 1 of these genesPOLR1CAbout this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 3 of these genesWDR45ATP13A2PLA2G6About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 7 of these genesFLVCR1TWNKVPS13DCOQ8APNKPVPS41About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 4 of these genesTSEN54SLC25A46TOE1VPS53About this report →
- Hereditary Spastic ParaplegiaReads 7 of these genesFARS2KIF5ASPTAN1AP5Z1ATP13A2BSCL2About this report →
- Spinal Muscular AtrophyReads 4 of these genesSPTAN1TSEN54ASAH1BSCL2About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 2 of these genesNEU1NAGAAbout this report →
- Hereditary Sideroblastic AnaemiasReads 2 of these genesABCB7GLRX5About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- Sandhoff Disease and GM2 Activator DeficiencyReads 1 of these genesHEXBAbout this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 2 of these genesPDHA1LIASAbout this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 2 of these genesSDHDSDHAAbout this report →
- Cerebral Amyloid AngiopathyReads 1 of these genesAPPAbout this report →
- Cerebral Creatine Deficiency SyndromesReads 1 of these genesGAMTAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesPHOX2BAbout this report →
- Frontotemporal DementiaReads 2 of these genesPSEN1CHMP2BAbout this report →
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyReads 1 of these genesGPHNAbout this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC25A19About this report →
- Treacher Collins SyndromeReads 1 of these genesPOLR1CAbout this report →
- Charcot-Marie-Tooth DiseaseReads 4 of these genesSCO2SPTAN1BSCL2AARS1About this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesARXPSAT1About this report →
- Classic Organic AciduriasReads 1 of these genesHMGCLAbout this report →
- Inherited Parathyroid & Calcium-Sensing DisordersReads 1 of these genesCASRAbout this report →
- Waardenburg SyndromeReads 1 of these genesSOX10About this report →
- Diabetes MellitusReads 2 of these genesBSCL2MT-TL1About this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesADARAbout this report →
- Familial Glucocorticoid DeficiencyReads 1 of these genesMRAPAbout this report →
- Malignant Endocrine NeoplasmReads 1 of these genesSDHAAbout this report →
- Oculocutaneous AlbinismReads 1 of these genesOCA2About this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesADSLAbout this report →
- Retinitis PigmentosaReads 3 of these genesFLVCR1DHDDSPOMGNT1About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesITPR1About this report →
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 1 of these genesATMAbout this report →
- DNA Repair DiseaseReads 2 of these genesAPTXMRE11About this report →
- Hereditary AmyloidosisReads 1 of these genesAPPAbout this report →
- LipodystrophyReads 1 of these genesBSCL2About this report →
- Severe Congenital NeutropeniaReads 1 of these genesCLPBAbout this report →
- Urinary and Renal System TumourReads 1 of these genesSDHAAbout this report →
- HyperlipidemiaReads 1 of these genesAPOEAbout this report →
- Female InfertilityReads 2 of these genesTWNKATMAbout this report →
- Other Inborn Errors of ImmunityReads 4 of these genesIRF4PGM3ADARATMAbout this report →
- Cutis LaxaReads 1 of these genesATP6V1AAbout this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 1 of these genesHMGCLAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesTSPYL1About this report →
- Congenital HypothyroidismReads 1 of these genesNKX2-1About this report →
- Neonatal Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesSCN9AAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesPOLR1CAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesCHMP2BAbout this report →
- Congenital Muscular DystrophiesReads 1 of these genesPOMGNT1About this report →
- Nephrotic SyndromeReads 1 of these genesPODXLAbout this report →
- Thyroid CancerReads 1 of these genesCASRAbout this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesPOMGNT1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesADARAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesMT-TIAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesTBC1D24About this report →
Läs generna kopplade till Jerking, och resten av ditt genom, med ett enda test.
Från 449 $Fri frakt · Resultat inom 6–8 veckor
Beställ mitt Genome Test352 gener kopplade till Jerking
Förändringar i dessa gener orsakar sällsynta tillstånd där Jerking 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Alltid | I 1 tillstånd |
| ADCY5adenylate cyclase 5 | Alltid | I 4 tillstånd |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 3 tillstånd |
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 1 tillstånd |
| APTXaprataxin | Alltid | I 1 tillstånd |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Alltid | I 1 tillstånd |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Alltid | I 2 tillstånd |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tillstånd |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alltid | I 1 tillstånd |
| CERS1ceramide synthase 1 | Alltid | I 1 tillstånd |
| CLN5CLN5 lysosomal BMP synthase | Alltid | I 1 tillstånd |
| CLN8CLN8 transmembrane ER and ERGIC protein | Alltid | I 1 tillstånd |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Alltid | I 2 tillstånd |
| CNTN2contactin 2 | Alltid | I 2 tillstånd |
| COG8component of oligomeric golgi complex 8 | Alltid | I 2 tillstånd |
| COQ2coenzyme Q2, polyprenyltransferase | Alltid | I 1 tillstånd |
| CSTBcystatin B | Alltid | I 2 tillstånd |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tillstånd |
| DNM1Ldynamin 1L | Alltid | I 1 tillstånd |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Alltid | I 2 tillstånd |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tillstånd |
| GCSHglycine cleavage system protein H | Alltid | I 1 tillstånd |
| GLRBglycine receptor beta | Alltid | I 2 tillstånd |
| GOSR2golgi SNAP receptor complex member 2 | Alltid | I 1 tillstånd |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alltid | I 3 tillstånd |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tillstånd |
| GTPBP1GTP binding protein 1 | Alltid | I 1 tillstånd |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Alltid | I 1 tillstånd |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 2 tillstånd |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tillstånd |
| KCNC1potassium voltage-gated channel subfamily C member 1 | Alltid | I 1 tillstånd |
| KIF5Akinesin family member 5A | Alltid | I 1 tillstånd |
| MAU2MAU2 sister chromatid cohesion factor | Alltid | I 1 tillstånd |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alltid | I 2 tillstånd |
| MRAPmelanocortin 2 receptor accessory protein | Alltid | I 1 tillstånd |
| NFU1NFU1 iron-sulfur cluster scaffold | Alltid | I 1 tillstånd |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Alltid | I 2 tillstånd |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Alltid | I 1 tillstånd |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 3 tillstånd |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tillstånd |
Visa 312 gener till
| Gen | Hur ofta den förekommer | Tillstånd |
|---|---|---|
| PRNPprion protein (Kanno blood group) | Alltid | I 5 tillstånd |
| PSAPprosaposin | Alltid | I 5 tillstånd |
| PTCD3pentatricopeptide repeat domain 3 | Alltid | I 1 tillstånd |
| RFT1RFT1 glycolipid translocator homolog | Alltid | I 1 tillstånd |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tillstånd |
| RPS6KC1ribosomal protein S6 kinase C1 | Alltid | I 1 tillstånd |
| SCARB2scavenger receptor class B member 2 | Alltid | I 2 tillstånd |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tillstånd |
| SDHDsuccinate dehydrogenase complex subunit D | Alltid | I 1 tillstånd |
| SEMA6Bsemaphorin 6B | Alltid | I 1 tillstånd |
| SGCEsarcoglycan epsilon | Alltid | I 2 tillstånd |
| SLC25A10solute carrier family 25 member 10 | Alltid | I 1 tillstånd |
| SLC25A12solute carrier family 25 member 12 | Alltid | I 1 tillstånd |
| SLC25A19solute carrier family 25 member 19 | Alltid | I 1 tillstånd |
| SLC2A1solute carrier family 2 member 1 | Alltid | I 2 tillstånd |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Alltid | I 1 tillstånd |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alltid | I 2 tillstånd |
| TRAPPC12trafficking protein particle complex subunit 12 | Alltid | I 2 tillstånd |
| TSEN54tRNA splicing endonuclease subunit 54 | Alltid | I 2 tillstånd |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tillstånd |
| YEATS2YEATS domain containing 2 | Alltid | I 2 tillstånd |
| ADRA2Badrenoceptor alpha 2B | Mycket ofta (80–99 %) | I 1 tillstånd |
| APPamyloid beta precursor protein | Mycket ofta (80–99 %) | I 2 tillstånd |
| ARXaristaless related homeobox | Mycket ofta (80–99 %) | I 2 tillstånd |
| ASAH1N-acylsphingosine amidohydrolase 1 | Mycket ofta (80–99 %) | I 3 tillstånd |
| ATAD1ATPase family AAA domain containing 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| CD4CD4 molecule | Mycket ofta (80–99 %) | I 1 tillstånd |
| CDKL5cyclin dependent kinase like 5 | Mycket ofta (80–99 %) | I 3 tillstånd |
| CNPY3canopy FGF signaling regulator 3 | Mycket ofta (80–99 %) | I 1 tillstånd |
| CTNND2catenin delta 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| DRD2dopamine receptor D2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| GLRA1glycine receptor alpha 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| GPHNgephyrin | Mycket ofta (80–99 %) | I 2 tillstånd |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Mycket ofta (80–99 %) | I 2 tillstånd |
| GUF1GTP binding elongation factor GUF1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| IRF4interferon regulatory factor 4 | Mycket ofta (80–99 %) | I 1 tillstånd |
| KCTD17potassium channel tetramerization domain containing 17 | Mycket ofta (80–99 %) | I 2 tillstånd |
| MARCHF6membrane associated ring-CH-type finger 6 | Mycket ofta (80–99 %) | I 2 tillstånd |
| NEU1neuraminidase 1 | Mycket ofta (80–99 %) | I 4 tillstånd |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PHACTR1phosphatase and actin regulator 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PLCB1phospholipase C beta 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| PRDM8PR/SET domain 8 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PRICKLE1prickle planar cell polarity protein 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PSEN1presenilin 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| PSEN2presenilin 2 | Mycket ofta (80–99 %) | I 2 tillstånd |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Mycket ofta (80–99 %) | I 1 tillstånd |
| SAMD12sterile alpha motif domain containing 12 | Mycket ofta (80–99 %) | I 1 tillstånd |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Mycket ofta (80–99 %) | I 3 tillstånd |
| SIK1salt inducible kinase 1 | Mycket ofta (80–99 %) | I 2 tillstånd |
| SLC6A5solute carrier family 6 member 5 | Mycket ofta (80–99 %) | I 2 tillstånd |
| SORL1sortilin related receptor 1 | Mycket ofta (80–99 %) | I 1 tillstånd |
| STARD7StAR related lipid transfer domain containing 7 | Mycket ofta (80–99 %) | I 1 tillstånd |
| TBC1D24TBC1 domain family member 24 | Mycket ofta (80–99 %) | I 5 tillstånd |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Mycket ofta (80–99 %) | I 1 tillstånd |
| TOMM40translocase of outer mitochondrial membrane 40 | Mycket ofta (80–99 %) | I 1 tillstånd |
| TOR1Atorsin family 1 member A | Mycket ofta (80–99 %) | I 1 tillstånd |
| TREM2triggering receptor expressed on myeloid cells 2 | Mycket ofta (80–99 %) | I 3 tillstånd |
| WDR45WD repeat domain 45 | Mycket ofta (80–99 %) | I 1 tillstånd |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Ofta (30–79 %) | I 1 tillstånd |
| APOEapolipoprotein E | Ofta (30–79 %) | I 2 tillstånd |
| ATN1atrophin 1 | Ofta (30–79 %) | I 2 tillstånd |
| ATP13A2ATPase cation transporting 13A2 | Ofta (30–79 %) | I 3 tillstånd |
| BORCS8BLOC-1 related complex subunit 8 | Ofta (30–79 %) | I 1 tillstånd |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ofta (30–79 %) | I 2 tillstånd |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofta (30–79 %) | I 2 tillstånd |
| CASRcalcium sensing receptor | Ofta (30–79 %) | I 1 tillstånd |
| CHD2chromodomain helicase DNA binding protein 2 | Ofta (30–79 %) | I 1 tillstånd |
| CIZ1CDKN1A interacting zinc finger protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| CLN6CLN6 transmembrane ER protein | Ofta (30–79 %) | I 1 tillstånd |
| CLPBClpB family mitochondrial disaggregase | Ofta (30–79 %) | I 2 tillstånd |
| COQ5coenzyme Q5, methyltransferase | Ofta (30–79 %) | I 1 tillstånd |
| COX4I1cytochrome c oxidase subunit 4I1 | Ofta (30–79 %) | I 1 tillstånd |
| CPLX1complexin 1 | Ofta (30–79 %) | I 1 tillstånd |
| CRLS1cardiolipin synthase 1 | Ofta (30–79 %) | I 1 tillstånd |
| CUX2cut like homeobox 2 | Ofta (30–79 %) | I 1 tillstånd |
| DAB1DAB adaptor protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| DDCdopa decarboxylase | Ofta (30–79 %) | I 1 tillstånd |
| DENND5ADENN domain containing 5A | Ofta (30–79 %) | I 1 tillstånd |
| DNM1dynamin 1 | Ofta (30–79 %) | I 3 tillstånd |
| DOCK7dedicator of cytokinesis 7 | Ofta (30–79 %) | I 2 tillstånd |
| DTYMKdeoxythymidylate kinase | Ofta (30–79 %) | I 1 tillstånd |
| EFHC1EF-hand domain containing 1 | Ofta (30–79 %) | I 1 tillstånd |
| FBXO28F-box protein 28 | Ofta (30–79 %) | I 2 tillstånd |
| FBXO7F-box protein 7 | Ofta (30–79 %) | I 1 tillstånd |
| FZR1fizzy and cell division cycle 20 related 1 | Ofta (30–79 %) | I 2 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 |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ofta (30–79 %) | I 2 tillstånd |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Ofta (30–79 %) | I 2 tillstånd |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Ofta (30–79 %) | I 1 tillstånd |
| GTPBP2GTP binding protein 2 | Ofta (30–79 %) | I 1 tillstånd |
| HEXBhexosaminidase subunit beta | Ofta (30–79 %) | I 1 tillstånd |
| HTThuntingtin | Ofta (30–79 %) | I 2 tillstånd |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Ofta (30–79 %) | I 2 tillstånd |
| KCTD7potassium channel tetramerization domain containing 7 | Ofta (30–79 %) | I 1 tillstånd |
| KICS2KICSTOR subunit 2 | Ofta (30–79 %) | I 1 tillstånd |
| LMNB2lamin B2 | Ofta (30–79 %) | I 1 tillstånd |
| MAPK10mitogen-activated protein kinase 10 | Ofta (30–79 %) | I 1 tillstånd |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofta (30–79 %) | I 1 tillstånd |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ofta (30–79 %) | I 1 tillstånd |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofta (30–79 %) | I 1 tillstånd |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofta (30–79 %) | I 1 tillstånd |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofta (30–79 %) | I 1 tillstånd |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofta (30–79 %) | I 1 tillstånd |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofta (30–79 %) | I 1 tillstånd |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ofta (30–79 %) | I 2 tillstånd |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ofta (30–79 %) | I 2 tillstånd |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofta (30–79 %) | I 2 tillstånd |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ofta (30–79 %) | I 1 tillstånd |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ofta (30–79 %) | I 2 tillstånd |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ofta (30–79 %) | I 2 tillstånd |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofta (30–79 %) | I 1 tillstånd |
| MTPAPmitochondrial poly(A) polymerase | Ofta (30–79 %) | I 1 tillstånd |
| NAGAalpha-N-acetylgalactosaminidase | Ofta (30–79 %) | I 2 tillstånd |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Ofta (30–79 %) | I 1 tillstånd |
| PCDH19protocadherin 19 | Ofta (30–79 %) | I 1 tillstånd |
| PGM3phosphoglucomutase 3 | Ofta (30–79 %) | I 2 tillstånd |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Ofta (30–79 %) | I 1 tillstånd |
| PLPBPpyridoxal phosphate binding protein | Ofta (30–79 %) | I 1 tillstånd |
| PNPOpyridoxamine 5'-phosphate oxidase | Ofta (30–79 %) | I 2 tillstånd |
| POLGDNA polymerase gamma, catalytic subunit | Ofta (30–79 %) | I 5 tillstånd |
| PSAT1phosphoserine aminotransferase 1 | Ofta (30–79 %) | I 2 tillstånd |
| SC5Dsterol-C5-desaturase | Ofta (30–79 %) | I 1 tillstånd |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofta (30–79 %) | I 4 tillstånd |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofta (30–79 %) | I 2 tillstånd |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofta (30–79 %) | I 2 tillstånd |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ofta (30–79 %) | I 1 tillstånd |
| SLC25A46solute carrier family 25 member 46 | Ofta (30–79 %) | I 2 tillstånd |
| SLC2A3solute carrier family 2 member 3 | Ofta (30–79 %) | I 1 tillstånd |
| SNCAsynuclein alpha | Ofta (30–79 %) | I 2 tillstånd |
| SOX10SRY-box transcription factor 10 | Ofta (30–79 %) | I 1 tillstånd |
| STAMBPSTAM binding protein | Ofta (30–79 %) | I 1 tillstånd |
| TAF1TATA-box binding protein associated factor 1 | Ofta (30–79 %) | I 2 tillstånd |
| THtyrosine hydroxylase | Ofta (30–79 %) | I 2 tillstånd |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Ofta (30–79 %) | I 1 tillstånd |
| TOE1target of EGR1, exonuclease | Ofta (30–79 %) | I 2 tillstånd |
| TSPOAP1TSPO associated protein 1 | Ofta (30–79 %) | I 1 tillstånd |
| TSPYL1TSPY like 1 | Ofta (30–79 %) | I 1 tillstånd |
| TWNKtwinkle mtDNA helicase | Ofta (30–79 %) | I 2 tillstånd |
| VPS13Dvacuolar protein sorting 13 homolog D | Ofta (30–79 %) | I 2 tillstånd |
| VPS53VPS53 subunit of GARP complex | Ofta (30–79 %) | I 1 tillstånd |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Ofta (30–79 %) | I 1 tillstånd |
| AARS1alanyl-tRNA synthetase 1 | Ibland (5–29 %) | I 1 tillstånd |
| ACTL6Bactin like 6B | Ibland (5–29 %) | I 1 tillstånd |
| ADARadenosine deaminase RNA specific | Ibland (5–29 %) | I 1 tillstånd |
| AFF3ALF transcription elongation factor 3 | Ibland (5–29 %) | I 1 tillstånd |
| AKT3AKT serine/threonine kinase 3 | Ibland (5–29 %) | I 1 tillstånd |
| ANO3anoctamin 3 | Ibland (5–29 %) | I 1 tillstånd |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Ibland (5–29 %) | I 1 tillstånd |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ibland (5–29 %) | I 1 tillstånd |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ibland (5–29 %) | I 1 tillstånd |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ibland (5–29 %) | I 1 tillstånd |
| ATP6V1AATPase H+ transporting V1 subunit A | Ibland (5–29 %) | I 1 tillstånd |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ibland (5–29 %) | I 1 tillstånd |
| BOLA3bolA family member 3 | Ibland (5–29 %) | I 2 tillstånd |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ibland (5–29 %) | I 2 tillstånd |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Ibland (5–29 %) | I 1 tillstånd |
| CACNB4calcium voltage-gated channel auxiliary subunit beta 4 | Ibland (5–29 %) | I 2 tillstånd |
| CASKcalcium/calmodulin dependent serine protein kinase | Ibland (5–29 %) | I 1 tillstånd |
| CDK19cyclin dependent kinase 19 | Ibland (5–29 %) | I 1 tillstånd |
| CELF2CUGBP Elav-like family member 2 | Ibland (5–29 %) | I 1 tillstånd |
| CICcapicua transcriptional repressor | Ibland (5–29 %) | I 1 tillstånd |
| CLCN4Cl-/H+ antiporter 4 | Ibland (5–29 %) | I 1 tillstånd |
| CLTCclathrin heavy chain | Ibland (5–29 %) | I 2 tillstånd |
| COQ8Acoenzyme Q8A | Ibland (5–29 %) | I 2 tillstånd |
| COXFA4cytochrome c oxidase associated subunit FA4 | Ibland (5–29 %) | I 1 tillstånd |
| CRELD1CRELD disulfide isomerase 1 | Ibland (5–29 %) | I 1 tillstånd |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Ibland (5–29 %) | I 1 tillstånd |
| DALRD3DALR anticodon binding domain containing 3 | Ibland (5–29 %) | I 1 tillstånd |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Ibland (5–29 %) | I 1 tillstånd |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ibland (5–29 %) | I 1 tillstånd |
| DMXL2Dmx like 2 | Ibland (5–29 %) | I 1 tillstånd |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Ibland (5–29 %) | I 1 tillstånd |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Ibland (5–29 %) | I 1 tillstånd |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Ibland (5–29 %) | I 1 tillstånd |
| EPM2AEPM2A glucan phosphatase, laforin | Ibland (5–29 %) | I 2 tillstånd |
| FGF12fibroblast growth factor 12 | Ibland (5–29 %) | I 1 tillstånd |
| FOXG1forkhead box G1 | Ibland (5–29 %) | I 1 tillstånd |
| FRMD5FERM domain containing 5 | Ibland (5–29 %) | I 1 tillstånd |
| FRRS1Lferric chelate reductase 1 like | Ibland (5–29 %) | I 1 tillstånd |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ibland (5–29 %) | I 1 tillstånd |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ibland (5–29 %) | I 1 tillstånd |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Ibland (5–29 %) | I 1 tillstånd |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ibland (5–29 %) | I 2 tillstånd |
| GALCgalactosylceramidase | Ibland (5–29 %) | I 1 tillstånd |
| GLRX5glutaredoxin 5 | Ibland (5–29 %) | I 1 tillstånd |
| GLYCTKglycerate kinase | Ibland (5–29 %) | I 2 tillstånd |
| GNAO1G protein subunit alpha o1 | Ibland (5–29 %) | I 1 tillstånd |
| GNB1G protein subunit beta 1 | Ibland (5–29 %) | I 1 tillstånd |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Ibland (5–29 %) | I 1 tillstånd |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Ibland (5–29 %) | I 1 tillstånd |
| GRM7glutamate metabotropic receptor 7 | Ibland (5–29 %) | I 1 tillstånd |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Ibland (5–29 %) | I 1 tillstånd |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Ibland (5–29 %) | I 2 tillstånd |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Ibland (5–29 %) | I 1 tillstånd |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ibland (5–29 %) | I 1 tillstånd |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Ibland (5–29 %) | I 2 tillstånd |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Ibland (5–29 %) | I 1 tillstånd |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Ibland (5–29 %) | I 1 tillstånd |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Ibland (5–29 %) | I 2 tillstånd |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Ibland (5–29 %) | I 1 tillstånd |
| KMT2Blysine methyltransferase 2B | Ibland (5–29 %) | I 1 tillstånd |
| LGI1leucine rich glioma inactivated 1 | Ibland (5–29 %) | I 1 tillstånd |
| LIG3DNA ligase 3 | Ibland (5–29 %) | I 1 tillstånd |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Ibland (5–29 %) | I 2 tillstånd |
| MRE11MRE11 double strand break repair nuclease | Ibland (5–29 %) | I 1 tillstånd |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ibland (5–29 %) | I 1 tillstånd |
| MTORmechanistic target of rapamycin kinase | Ibland (5–29 %) | I 1 tillstånd |
| NARS1asparaginyl-tRNA synthetase 1 | Ibland (5–29 %) | I 1 tillstånd |
| NAXDNAD(P)HX dehydratase | Ibland (5–29 %) | I 1 tillstånd |
| NAXENAD(P)HX epimerase | Ibland (5–29 %) | I 1 tillstånd |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Ibland (5–29 %) | I 1 tillstånd |
| NECAP1NECAP endocytosis associated 1 | Ibland (5–29 %) | I 1 tillstånd |
| NEUROD2neuronal differentiation 2 | Ibland (5–29 %) | I 1 tillstånd |
| NGLY1N-glycanase 1 | Ibland (5–29 %) | I 2 tillstånd |
| NKX2-1NK2 homeobox 1 | Ibland (5–29 %) | I 1 tillstånd |
| NPTX1neuronal pentraxin 1 | Ibland (5–29 %) | I 1 tillstånd |
| NUP54nucleoporin 54 | Ibland (5–29 %) | I 1 tillstånd |
| NUP62nucleoporin 62 | Ibland (5–29 %) | I 1 tillstånd |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Ibland (5–29 %) | I 1 tillstånd |
| OCA2OCA2 melanosomal transmembrane protein | Ibland (5–29 %) | I 1 tillstånd |
| PACS2phosphofurin acidic cluster sorting protein 2 | Ibland (5–29 %) | I 1 tillstånd |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ibland (5–29 %) | I 1 tillstånd |
| PET100PET100 cytochrome c oxidase chaperone | Ibland (5–29 %) | I 1 tillstånd |
| PGAP2post-GPI attachment to proteins 2 | Ibland (5–29 %) | I 1 tillstånd |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Ibland (5–29 %) | I 1 tillstånd |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ibland (5–29 %) | I 1 tillstånd |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Ibland (5–29 %) | I 1 tillstånd |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ibland (5–29 %) | I 1 tillstånd |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Ibland (5–29 %) | I 1 tillstånd |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ibland (5–29 %) | I 1 tillstånd |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Ibland (5–29 %) | I 1 tillstånd |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ibland (5–29 %) | I 1 tillstånd |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ibland (5–29 %) | I 1 tillstånd |
| PLA2G6phospholipase A2 group VI | Ibland (5–29 %) | I 1 tillstånd |
| PNKPpolynucleotide kinase 3'-phosphatase | Ibland (5–29 %) | I 1 tillstånd |
| PODXLpodocalyxin like | Ibland (5–29 %) | I 1 tillstånd |
| POLR1CRNA polymerase I and III subunit C | Ibland (5–29 %) | I 1 tillstånd |
| PPFIA3PPFI scaffold protein A3 | Ibland (5–29 %) | I 1 tillstånd |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ibland (5–29 %) | I 1 tillstånd |
| PRKCGprotein kinase C gamma | Ibland (5–29 %) | I 1 tillstånd |
| PTS6-pyruvoyltetrahydropterin synthase | Ibland (5–29 %) | I 1 tillstånd |
| PURApurine rich element binding protein A | Ibland (5–29 %) | I 2 tillstånd |
| RBMXRNA binding motif protein X-linked | Ibland (5–29 %) | I 1 tillstånd |
| RHOBTB2Rho related BTB domain containing 2 | Ibland (5–29 %) | I 1 tillstånd |
| RMND1required for meiotic nuclear division 1 homolog | Ibland (5–29 %) | I 1 tillstånd |
| SATB1SATB homeobox 1 | Ibland (5–29 %) | I 1 tillstånd |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Ibland (5–29 %) | I 1 tillstånd |
| SLC13A5solute carrier family 13 member 5 | Ibland (5–29 %) | I 1 tillstånd |
| SLC1A2solute carrier family 1 member 2 | Ibland (5–29 %) | I 1 tillstånd |
| SLC25A22solute carrier family 25 member 22 | Ibland (5–29 %) | I 1 tillstånd |
| SLC32A1solute carrier family 32 member 1 | Ibland (5–29 %) | I 1 tillstånd |
| SLC38A3solute carrier family 38 member 3 | Ibland (5–29 %) | I 1 tillstånd |
| SMSspermine synthase | Ibland (5–29 %) | I 1 tillstånd |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Ibland (5–29 %) | I 1 tillstånd |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ibland (5–29 %) | I 1 tillstånd |
| SYNJ1synaptojanin 1 | Ibland (5–29 %) | I 2 tillstånd |
| SZT2SZT2 subunit of KICSTOR complex | Ibland (5–29 %) | I 1 tillstånd |
| TEFMtranscription elongation factor, mitochondrial | Ibland (5–29 %) | I 1 tillstånd |
| THAP1THAP domain containing 1 | Ibland (5–29 %) | I 1 tillstånd |
| THAP11THAP domain containing 11 | Ibland (5–29 %) | I 1 tillstånd |
| TRAK1trafficking kinesin protein 1 | Ibland (5–29 %) | I 2 tillstånd |
| TRIM8tripartite motif containing 8 | Ibland (5–29 %) | I 1 tillstånd |
| UBA5ubiquitin like modifier activating enzyme 5 | Ibland (5–29 %) | I 1 tillstånd |
| UBE3Aubiquitin protein ligase E3A | Ibland (5–29 %) | I 1 tillstånd |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Ibland (5–29 %) | I 1 tillstånd |
| UFSP2UFM1 specific peptidase 2 | Ibland (5–29 %) | I 1 tillstånd |
| VPS41VPS41 subunit of HOPS complex | Ibland (5–29 %) | I 1 tillstånd |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Ibland (5–29 %) | I 1 tillstånd |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sällan (1–4%) | I 1 tillstånd |
| ALKALK receptor tyrosine kinase | Sällan (1–4%) | I 1 tillstånd |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Sällan (1–4%) | I 1 tillstånd |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Sällan (1–4%) | I 1 tillstånd |
| LMO1LIM domain only 1 | Sällan (1–4%) | I 1 tillstånd |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Sällan (1–4%) | I 1 tillstånd |
| PHOX2Bpaired like homeobox 2B | Sällan (1–4%) | I 1 tillstånd |
| ADSLadenylosuccinate lyase | Inte registrerat | I 1 tillstånd |
| ATMATM serine/threonine kinase | Inte registrerat | I 1 tillstånd |
| ATXN2ataxin 2 | Inte registrerat | I 1 tillstånd |
| CHMP2Bcharged multivesicular body protein 2B | Inte registrerat | I 1 tillstånd |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Inte registrerat | I 1 tillstånd |
| CTSFcathepsin F | Inte registrerat | I 1 tillstånd |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Inte registrerat | I 1 tillstånd |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Inte registrerat | I 1 tillstånd |
| GAMTguanidinoacetate N-methyltransferase | Inte registrerat | I 1 tillstånd |
| GBA1glucosylceramidase beta 1 | Inte registrerat | I 1 tillstånd |
| GLDCglycine decarboxylase | Inte registrerat | I 1 tillstånd |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Inte registrerat | I 1 tillstånd |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Inte registrerat | I 1 tillstånd |
| KCND3potassium voltage-gated channel subfamily D member 3 | Inte registrerat | I 1 tillstånd |
| KIF1Bkinesin family member 1B | Inte registrerat | I 1 tillstånd |
| LIASlipoic acid synthetase | Inte registrerat | I 1 tillstånd |
| MECP2methyl-CpG binding protein 2 | Inte registrerat | I 1 tillstånd |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Inte registrerat | I 1 tillstånd |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Inte registrerat | I 1 tillstånd |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Inte registrerat | I 1 tillstånd |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Inte registrerat | I 1 tillstånd |
| NFASCneurofascin | Inte registrerat | I 1 tillstånd |
| NOL3nucleolar protein 3 | Inte registrerat | I 1 tillstånd |
| NUP214nucleoporin 214 | Inte registrerat | I 1 tillstånd |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Inte registrerat | I 1 tillstånd |
| PPT1palmitoyl-protein thioesterase 1 | Inte registrerat | I 1 tillstånd |
| QDPRquinoid dihydropteridine reductase | Inte registrerat | I 1 tillstånd |
| RORBRAR related orphan receptor B | Inte registrerat | I 1 tillstånd |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Inte registrerat | I 1 tillstånd |
| SERPINI1serpin family I member 1 | Inte registrerat | I 1 tillstånd |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Inte registrerat | I 1 tillstånd |
| TBPTATA-box binding protein | Inte registrerat | I 1 tillstånd |
| TPP1tripeptidyl peptidase 1 | Inte registrerat | I 1 tillstånd |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Inte registrerat | I 1 tillstånd |
| ZNHIT3zinc finger HIT-type containing 3 | 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 2026.10.19-9814e911.
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