Tratto
Degeneration of cerebrum
Nome clinico: Cerebral atrophy
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Riepilogo
- Sistema corporeo
- Abnormality of the nervous system
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page$trait$nameLeggi i geni collegati a Degeneration of cerebrum e il resto del tuo genoma con un unico test.
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Ottieni il mio Genome Test148 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 88 of these genesAARS1ADAM22ALG13ATP6AP2EEF1A2GABRA1About this report →
- Inherited Neurodegenerative DisordersReads 82 of these genesAARS1ACER3AFG3L2ATP11ACTSDCYP27A1About this report →
- Congenital Disorders of GlycosylationReads 29 of these genesALG13ALG14ALG9ATP6AP2COG1COG7About this report →
- Primary Mitochondrial DiseaseReads 29 of these genesAFG3L2COQ9FARS2MRM2NDUFA2NDUFA8About this report →
Show 144 more reports
- Lysosomal Storage DiseaseReads 19 of these genesCTSDCYP27A1KCTD7GM2ACLN8HEXBAbout this report →
- Other Inherited LeukodystrophiesReads 22 of these genesAARS1ACER3ATP11ACYP27A1EPRS1IFIH1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 34 of these genesAARS1COQ9CYP27A1FARS2NDUFA2NDUFA9About this report →
- Intellectual DisabilityReads 34 of these genesAHDC1ATP6AP2NAA10PGAP1ADKGRIN1About this report →
- Neuronal Ceroid LipofuscinosisReads 8 of these genesCTSDKCTD7CLN8CLN3CLN6MFSD8About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 9 of these genesPCLOVPS53COASYTSEN2EXOSC3EXOSC9About this report →
- Aicardi-Goutieres SyndromeReads 5 of these genesIFIH1RNU7-1RNASEH2ARNASEH2BTREX1About this report →
- Familial Hemiplegic MigraineReads 3 of these genesSCN1AATP1A2CACNA1AAbout this report →
- Hereditary Spastic ParaplegiaReads 14 of these genesFARS2GBA2PCYT2SPG21TECPR2UCHL1About this report →
- Leigh SyndromeReads 14 of these genesFARS2NDUFA2NDUFA9AIFM1FBXL4GFM2About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 9 of these genesAFG3L2ITPR1ATXN7PPP2R2BPUM1ATP1A3About this report →
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyReads 3 of these genesSUOXMOCS1MOCS2About this report →
- Sandhoff Disease and GM2 Activator DeficiencyReads 2 of these genesGM2AHEXBAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 7 of these genesATP11AEPRS1RARS1AIMP2GJC2PYCR2About this report →
- GPI Anchor Biosynthesis DefectsReads 6 of these genesPIGAPIGSPIGGPIGLPIGTPIGNAbout this report →
- Methylmalonic & Propionic AcidemiaReads 5 of these genesMMADHCABCD4MMACHCPCCAPCCBAbout this report →
- Parkinson DiseaseReads 5 of these genesMAPTPLA2G6PRKNSYNJ1GBA1About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 3 of these genesAGAFUCA1NAGAAbout this report →
- Homocystinuria & Cobalamin DisordersReads 5 of these genesMMADHCABCD4MMACHCMTRMTRRAbout this report →
- Noonan SyndromeReads 5 of these genesBRAFKRASMAP2K1MAP2K2HRASAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 8 of these genesCYP27A1ATG7PITRM1TDP1WWOXCTDP1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 5 of these genesRNU4-2MYT1LTRAF7ZFXTBCKAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 6 of these genesIFIH1POLA1RNU7-1RNASEH2ARNASEH2BTREX1About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 3 of these genesEMC1CACNA1ACACNA1BAbout this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 3 of these genesPDHA1LIASPDHXAbout this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 2 of these genesTREM2TYROBPAbout this report →
- Hereditary Episodic AtaxiasReads 2 of these genesSCN2ACACNA1AAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 2 of these genesNFIXNSD1About this report →
- 3-Methylglutaconic Aciduria Type 1Reads 1 of these genesAUHAbout this report →
- 3-Methylglutaconic Aciduria Type 8 (HTRA2)Reads 1 of these genesHTRA2About this report →
- 3-Methylglutaconic Aciduria Type 9 (TIMM50)Reads 1 of these genesTIMM50About this report →
- Aminoacylase 1 DeficiencyReads 1 of these genesACY1About this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- Beta-ureidopropionase deficiencyReads 1 of these genesUPB1About this report →
- Björnstad SyndromeReads 1 of these genesBCS1LAbout this report →
- Cerebrotendinous XanthomatosisReads 1 of these genesCYP27A1About this report →
- Christianson SyndromeReads 1 of these genesSLC9A6About this report →
- CystinosisReads 1 of these genesCTNSAbout this report →
- DHX30-Related Neurodevelopmental DisorderReads 1 of these genesDHX30About this report →
- DNMT1-Related Ataxia, Deafness and Narcolepsy (ADCA-DN)Reads 1 of these genesDNMT1About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- GRIA2-Related Neurodevelopmental DisorderReads 1 of these genesGRIA2About this report →
- Hereditary Leiomyomatosis and Renal Cell CancerReads 1 of these genesFHAbout this report →
- HSD10 Mitochondrial DiseaseReads 1 of these genesHSD17B10About this report →
- Huntington DiseaseReads 1 of these genesHTTAbout this report →
- Kaya-Barakat-Masson SyndromeReads 1 of these genesYIF1BAbout this report →
- KCNQ2-Related Neonatal Encephalopathy with Non-Epileptic MyoclonusReads 1 of these genesKCNQ2About this report →
- KIDINS220-Related Ventriculomegaly and ArthrogryposisReads 1 of these genesKIDINS220About this report →
- Kohlschütter-Tönz SyndromeReads 1 of these genesROGDIAbout this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- MED27-Related Neurodevelopmental DisorderReads 1 of these genesMED27About this report →
- Microcephaly and Chorioretinopathy 1 (TUBGCP6)Reads 1 of these genesTUBGCP6About this report →
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- NRROS-Related Early-Onset Seizures with NeurodegenerationReads 1 of these genesNRROSAbout this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- RTTN-Related Microcephalic Primordial DwarfismReads 1 of these genesRTTNAbout this report →
- Salla Disease and Free Sialic Acid Storage DiseaseReads 1 of these genesSLC17A5About this report →
- Saul-Wilson SyndromeReads 1 of these genesCOG4About this report →
- Spondyloepimetaphyseal Dysplasia, Genevieve TypeReads 1 of these genesNANSAbout this report →
- UBTF-Related NeuroregressionReads 1 of these genesUBTFAbout this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- VARS1-Related Neurodevelopmental DisorderReads 1 of these genesVARS1About this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 3 of these genesPLA2G6WDR45COASYAbout this report →
- Spinal Muscular AtrophyReads 5 of these genesBSCL2TSEN2EXOSC3SEPSECSSPTAN1About this report →
- Hypertrophic CardiomyopathyReads 7 of these genesBRAFKRASMAP2K1MAP2K2NSD1DMPKAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 4 of these genesTECPR2AIFM1KIF1ADNMT1About this report →
- Type I InterferonopathiesReads 3 of these genesIFIH1POLA1TREX1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 5 of these genesBCAP31WARS2ATP1A3MECRSLC2A1About this report →
- Disorders of Glycine & Serine MetabolismReads 2 of these genesPSPHSLC1A4About this report →
- Purine & Pyrimidine Metabolism DisordersReads 2 of these genesADSLDPYDAbout 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 →
- DOORS SyndromeReads 1 of these genesTBC1D24About this report →
- Hereditary Manganese Transporter DisordersReads 1 of these genesSLC39A14About this report →
- Myotonic DystrophyReads 1 of these genesDMPKAbout this report →
- Rare Inherited Megaloblastic AnaemiasReads 1 of these genesDHFRAbout this report →
- Wolfram Syndrome & WFS1 SpectrumReads 1 of these genesWFS1About this report →
- Charcot-Marie-Tooth DiseaseReads 6 of these genesAARS1AIFM1SCO2BSCL2MORC2SPTAN1About this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesPSPHAPC2RAB3GAP1About this report →
- Cerebral Amyloid AngiopathyReads 1 of these genesCST3About this report →
- Hereditary Fructose Intolerance & Gluconeogenesis DefectsReads 1 of these genesPCK1About this report →
- Leukocyte Adhesion DeficiencyReads 1 of these genesSLC35C1About this report →
- Megalencephalic Leukoencephalopathy with Subcortical CystsReads 1 of these genesHEPACAMAbout this report →
- Frontotemporal DementiaReads 2 of these genesMAPTC9orf72About this report →
- Hereditary Optic NeuropathyReads 2 of these genesAFG3L2ATP1A3About this report →
- Diabetes MellitusReads 3 of these genesMT-TL1BSCL2HNF1BAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 2 of these genesAPC2KIF26AAbout this report →
- PorokeratosisReads 1 of these genesMVKAbout this report →
- Joubert Syndrome And Related DisordersReads 3 of these genesKIF7OFD1TCTN3About this report →
- Other Inborn Errors of ImmunityReads 7 of these genesFADDIFIH1KRASRNU7-1RNASEH2ARNASEH2BAbout this report →
- DNA Repair DiseaseReads 3 of these genesERCC6ERCC8TDP1About this report →
- Neonatal Diabetes MellitusReads 2 of these genesBSCL2HNF1BAbout this report →
- Alzheimer diseaseReads 1 of these genesTREM2About this report →
- Autosomal Dominant Tubulointerstitial Kidney DiseaseReads 1 of these genesHNF1BAbout this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesTGFB1About this report →
- Autoimmune DiseaseReads 2 of these genesKRASTREX1About this report →
- Hereditary Congenital & Juvenile CataractReads 2 of these genesMAFWFS1About this report →
- Syndromic CraniosynostosisReads 2 of these genesFGFR1RAB23About this report →
- Adams-Oliver SyndromeReads 1 of these genesDOCK6About this report →
- Hereditary Periodic Fever SyndromesReads 1 of these genesMVKAbout this report →
- Inflammatory Bowel Diseases (IBD)Reads 1 of these genesTGFB1About this report →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Hearing Loss and DeafnessReads 4 of these genesATP11ATBC1D24AIFM1WFS1About this report →
- Congenital Myasthenic SyndromeReads 2 of these genesALG14SYT2About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Classic Organic AciduriasReads 1 of these genesGCDHAbout this report →
- Waardenburg SyndromeReads 1 of these genesSOX10About this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesTRNT1About this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesTPI1About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesITPR1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesNSD1About this report →
- Familial HypomagnesemiaReads 1 of these genesTRPM7About this report →
- Hermansky-Pudlak SyndromeReads 1 of these genesAP3D1About this report →
- Heterotaxy & Laterality DefectsReads 1 of these genesNODALAbout this report →
- Polycystic Kidney DiseaseReads 1 of these genesALG9About this report →
- Coffin-Siris SyndromeReads 1 of these genesSMARCC2About this report →
- Hereditary AmyloidosisReads 1 of these genesCST3About this report →
- LipodystrophyReads 1 of these genesBSCL2About this report →
- Maturity-Onset Diabetes Of The YoungReads 1 of these genesHNF1BAbout this report →
- Severe Congenital NeutropeniaReads 1 of these genesCLPBAbout this report →
- Hypogonadotropic HypogonadismReads 2 of these genesFGFR1RNF216About this report →
- Myofibrillar MyopathiesReads 1 of these genesKYAbout this report →
- OsteopetrosisReads 1 of these genesOSTM1About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX19About this report →
- Cutis LaxaReads 1 of these genesATP6V1AAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesGJC2About this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesZNF335About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesATRXAbout this report →
- Retinitis PigmentosaReads 2 of these genesDHDDSOFD1About this report →
- Ehlers-Danlos SyndromeReads 1 of these genesDSEAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesNMNAT1About this report →
- VitreoretinopathyReads 1 of these genesCOL18A1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesRAB3GAP1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesC9orf72About this report →
- Inherited ThrombocytopeniasReads 1 of these genesFLI1About this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesTRAPPC11About this report →
- Osteogenesis ImperfectaReads 1 of these genesIFIH1About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesAP1B1About this report →
- Female InfertilityReads 1 of these genesTWNKAbout this report →
Leggi i geni collegati a Degeneration of cerebrum e il resto del tuo genoma con un unico test.
A partire da 449 $Spedizione gratuita · Risultati in 6–8 settimane
Ottieni il mio Genome Test413 geni collegati a Degeneration of cerebrum
Alterazioni in questi geni causano malattie rare in cui si osserva Degeneration of cerebrum. La maggior parte delle persone con questo tratto non presenta nessuna di tali condizioni, e un gene di questo elenco non dice nulla sul genoma di nessuno in particolare.
| Gene | Frequenza di osservazione | Condizioni |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Sempre | In 2 condizioni |
| ACER3alkaline ceramidase 3 | Sempre | In 1 condizione |
| ADAM22ADAM metallopeptidase domain 22 | Sempre | In 1 condizione |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Sempre | In 1 condizione |
| AHDC1AT-hook DNA binding motif containing 1 | Sempre | In 1 condizione |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Sempre | In 1 condizione |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Sempre | In 1 condizione |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sempre | In 2 condizioni |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Sempre | In 1 condizione |
| ATP11AATPase phospholipid transporting 11A | Sempre | In 1 condizione |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Sempre | In 1 condizione |
| BORCS8BLOC-1 related complex subunit 8 | Sempre | In 1 condizione |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sempre | In 1 condizione |
| CCDC47coiled-coil domain containing 47 | Sempre | In 1 condizione |
| COG1component of oligomeric golgi complex 1 | Sempre | In 1 condizione |
| COG7component of oligomeric golgi complex 7 | Sempre | In 1 condizione |
| COL18A1collagen type XVIII alpha 1 chain | Sempre | In 1 condizione |
| COQ9coenzyme Q9 | Sempre | In 1 condizione |
| COX4I1cytochrome c oxidase subunit 4I1 | Sempre | In 1 condizione |
| CST3cystatin C | Sempre | In 1 condizione |
| CTSDcathepsin D | Sempre | In 1 condizione |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Sempre | In 1 condizione |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Sempre | In 2 condizioni |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sempre | In 2 condizioni |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Sempre | In 1 condizione |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Sempre | In 1 condizione |
| EXOSC1exosome component 1 | Sempre | In 1 condizione |
| FADDFas associated via death domain | Sempre | In 2 condizioni |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Sempre | In 1 condizione |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Sempre | In 1 condizione |
| GBA2glucosylceramidase beta 2 | Sempre | In 3 condizioni |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Sempre | In 1 condizione |
| HTThuntingtin | Sempre | In 2 condizioni |
| IBA57iron-sulfur cluster assembly factor IBA57 | Sempre | In 2 condizioni |
| IFIH1interferon induced with helicase C domain 1 | Sempre | In 1 condizione |
| INTS11integrator complex subunit 11 | Sempre | In 1 condizione |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Sempre | In 1 condizione |
| KCTD7potassium channel tetramerization domain containing 7 | Sempre | In 2 condizioni |
| KRASKRas proto-oncogene, GTPase | Sempre | In 2 condizioni |
| LSM11LSM11, U7 small nuclear RNA associated | Sempre | In 1 condizione |
Mostra altri 373 geni
| Gene | Frequenza di osservazione | Condizioni |
|---|---|---|
| MAP2K1mitogen-activated protein kinase kinase 1 | Sempre | In 1 condizione |
| MAP2K2mitogen-activated protein kinase kinase 2 | Sempre | In 1 condizione |
| MAPTmicrotubule associated protein tau | Sempre | In 1 condizione |
| MMADHCmetabolism of cobalamin associated D | Sempre | In 1 condizione |
| MRM2mitochondrial rRNA methyltransferase 2 | Sempre | In 1 condizione |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sempre | In 2 condizioni |
| NADK2NAD kinase 2, mitochondrial | Sempre | In 1 condizione |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Sempre | In 1 condizione |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Sempre | In 1 condizione |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Sempre | In 1 condizione |
| NEUROD2neuronal differentiation 2 | Sempre | In 1 condizione |
| NOTCH3notch receptor 3 | Sempre | In 1 condizione |
| PCLOpiccolo presynaptic cytomatrix protein | Sempre | In 1 condizione |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Sempre | In 1 condizione |
| PEX19peroxisomal biogenesis factor 19 | Sempre | In 1 condizione |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Sempre | In 1 condizione |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Sempre | In 3 condizioni |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Sempre | In 1 condizione |
| PLA2G6phospholipase A2 group VI | Sempre | In 2 condizioni |
| POLGDNA polymerase gamma, catalytic subunit | Sempre | In 2 condizioni |
| POLR1ARNA polymerase I subunit A | Sempre | In 1 condizione |
| PSPHphosphoserine phosphatase | Sempre | In 1 condizione |
| PTCD3pentatricopeptide repeat domain 3 | Sempre | In 1 condizione |
| RNU4-2RNA, U4 small nuclear 2 | Sempre | In 1 condizione |
| SLC31A1solute carrier family 31 member 1 | Sempre | In 1 condizione |
| SLC33A1solute carrier family 33 member 1 | Sempre | In 1 condizione |
| SLC5A6solute carrier family 5 member 6 | Sempre | In 1 condizione |
| SLC9A6solute carrier family 9 member A6 | Sempre | In 1 condizione |
| SPG21SPG21 abhydrolase domain containing, maspardin | Sempre | In 1 condizione |
| SPOUT1SPOUT domain containing methyltransferase 1 | Sempre | In 1 condizione |
| SUOXsulfite oxidase | Sempre | In 1 condizione |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Sempre | In 1 condizione |
| TBC1D24TBC1 domain family member 24 | Sempre | In 3 condizioni |
| TECPR2tectonin beta-propeller repeat containing 2 | Sempre | In 2 condizioni |
| TGFB1transforming growth factor beta 1 | Sempre | In 1 condizione |
| TTC5tetratricopeptide repeat domain 5 | Sempre | In 1 condizione |
| UBTFupstream binding transcription factor | Sempre | In 2 condizioni |
| UCHL1ubiquitin C-terminal hydrolase L1 | Sempre | In 1 condizione |
| VARS1valyl-tRNA synthetase 1 | Sempre | In 1 condizione |
| VPS53VPS53 subunit of GARP complex | Sempre | In 1 condizione |
| WDR45WD repeat domain 45 | Sempre | In 2 condizioni |
| ADSLadenylosuccinate lyase | Molto spesso (80–99%) | In 1 condizione |
| GM2Aganglioside GM2 activator | Molto spesso (80–99%) | In 2 condizioni |
| GRM7glutamate metabotropic receptor 7 | Molto spesso (80–99%) | In 1 condizione |
| NGLY1N-glycanase 1 | Molto spesso (80–99%) | In 1 condizione |
| STXBP1syntaxin binding protein 1 | Molto spesso (80–99%) | In 1 condizione |
| TIMM50translocase of inner mitochondrial membrane 50 | Molto spesso (80–99%) | In 2 condizioni |
| ABAT4-aminobutyrate aminotransferase | Spesso (30–79%) | In 1 condizione |
| ABCD4ATP binding cassette subfamily D member 4 | Spesso (30–79%) | In 1 condizione |
| ACTL6Bactin like 6B | Spesso (30–79%) | In 2 condizioni |
| ADKadenosine kinase | Spesso (30–79%) | In 1 condizione |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Spesso (30–79%) | In 1 condizione |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Spesso (30–79%) | In 1 condizione |
| ATG7autophagy related 7 | Spesso (30–79%) | In 1 condizione |
| ATXN7ataxin 7 | Spesso (30–79%) | In 1 condizione |
| BCAP31B cell receptor associated protein 31 | Spesso (30–79%) | In 1 condizione |
| BCAS3BCAS3 microtubule associated cell migration factor | Spesso (30–79%) | In 1 condizione |
| BORCS5BLOC-1 related complex subunit 5 | Spesso (30–79%) | In 1 condizione |
| CAPRIN1cell cycle associated protein 1 | Spesso (30–79%) | In 1 condizione |
| CDK19cyclin dependent kinase 19 | Spesso (30–79%) | In 2 condizioni |
| CILK1ciliogenesis associated kinase 1 | Spesso (30–79%) | In 1 condizione |
| CLN8CLN8 transmembrane ER and ERGIC protein | Spesso (30–79%) | In 3 condizioni |
| CLPBClpB family mitochondrial disaggregase | Spesso (30–79%) | In 2 condizioni |
| COLGALT1collagen beta(1-O)galactosyltransferase 1 | Spesso (30–79%) | In 1 condizione |
| COQ4coenzyme Q4 | Spesso (30–79%) | In 1 condizione |
| CPSF3cleavage and polyadenylation specific factor 3 | Spesso (30–79%) | In 1 condizione |
| CRLS1cardiolipin synthase 1 | Spesso (30–79%) | In 1 condizione |
| DHX30DExH-box helicase 30 | Spesso (30–79%) | In 1 condizione |
| DTYMKdeoxythymidylate kinase | Spesso (30–79%) | In 1 condizione |
| EMC1ER membrane protein complex subunit 1 | Spesso (30–79%) | In 2 condizioni |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Spesso (30–79%) | In 2 condizioni |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Spesso (30–79%) | In 1 condizione |
| FAR1fatty acyl-CoA reductase 1 | Spesso (30–79%) | In 1 condizione |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Spesso (30–79%) | In 1 condizione |
| FBXL4F-box and leucine rich repeat protein 4 | Spesso (30–79%) | In 1 condizione |
| FBXO28F-box protein 28 | Spesso (30–79%) | In 2 condizioni |
| FDXRferredoxin reductase | Spesso (30–79%) | In 1 condizione |
| FGFR1fibroblast growth factor receptor 1 | Spesso (30–79%) | In 1 condizione |
| FHfumarate hydratase | Spesso (30–79%) | In 2 condizioni |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Spesso (30–79%) | In 2 condizioni |
| GNAO1G protein subunit alpha o1 | Spesso (30–79%) | In 2 condizioni |
| GOT2glutamic-oxaloacetic transaminase 2 | Spesso (30–79%) | In 1 condizione |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Spesso (30–79%) | In 1 condizione |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Spesso (30–79%) | In 1 condizione |
| JKAMPJNK1/MAPK8 associated membrane protein | Spesso (30–79%) | In 1 condizione |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Spesso (30–79%) | In 2 condizioni |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Spesso (30–79%) | In 1 condizione |
| KIDINS220kinase D interacting substrate 220 | Spesso (30–79%) | In 1 condizione |
| KIF1Akinesin family member 1A | Spesso (30–79%) | In 1 condizione |
| LAGE3L antigen family member 3 | Spesso (30–79%) | In 1 condizione |
| LGI1leucine rich glioma inactivated 1 | Spesso (30–79%) | In 1 condizione |
| LONP1lon peptidase 1, mitochondrial | Spesso (30–79%) | In 1 condizione |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Spesso (30–79%) | In 1 condizione |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Spesso (30–79%) | In 2 condizioni |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Spesso (30–79%) | In 1 condizione |
| NANSN-acetylneuraminate synthase | Spesso (30–79%) | In 1 condizione |
| NAXDNAD(P)HX dehydratase | Spesso (30–79%) | In 2 condizioni |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Spesso (30–79%) | In 1 condizione |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Spesso (30–79%) | In 1 condizione |
| NT5C25'-nucleotidase, cytosolic II | Spesso (30–79%) | In 1 condizione |
| OSGEPO-sialoglycoprotein endopeptidase | Spesso (30–79%) | In 1 condizione |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Spesso (30–79%) | In 1 condizione |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Spesso (30–79%) | In 2 condizioni |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Spesso (30–79%) | In 1 condizione |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Spesso (30–79%) | In 1 condizione |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Spesso (30–79%) | In 1 condizione |
| PITRM1pitrilysin metallopeptidase 1 | Spesso (30–79%) | In 1 condizione |
| PLCB1phospholipase C beta 1 | Spesso (30–79%) | In 1 condizione |
| POGZpogo transposable element derived with ZNF domain | Spesso (30–79%) | In 1 condizione |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Spesso (30–79%) | In 1 condizione |
| PRUNE1prune exopolyphosphatase 1 | Spesso (30–79%) | In 1 condizione |
| PUM1pumilio RNA binding family member 1 | Spesso (30–79%) | In 1 condizione |
| PUS3pseudouridine synthase 3 | Spesso (30–79%) | In 1 condizione |
| RARS1arginyl-tRNA synthetase 1 | Spesso (30–79%) | In 1 condizione |
| RBL2RB transcriptional corepressor like 2 | Spesso (30–79%) | In 1 condizione |
| RBSNrabenosyn, RAB effector | Spesso (30–79%) | In 1 condizione |
| RCC1regulator of chromosome condensation 1 | Spesso (30–79%) | In 1 condizione |
| REPS1RALBP1 associated Eps domain containing 1 | Spesso (30–79%) | In 1 condizione |
| RFT1RFT1 glycolipid translocator homolog | Spesso (30–79%) | In 2 condizioni |
| RNF216ring finger protein 216 | Spesso (30–79%) | In 1 condizione |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Spesso (30–79%) | In 3 condizioni |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Spesso (30–79%) | In 1 condizione |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Spesso (30–79%) | In 2 condizioni |
| SCO2synthesis of cytochrome C oxidase 2 | Spesso (30–79%) | In 1 condizione |
| SLC12A5solute carrier family 12 member 5 | Spesso (30–79%) | In 2 condizioni |
| SLC19A1solute carrier family 19 member 1 | Spesso (30–79%) | In 1 condizione |
| SLC1A2solute carrier family 1 member 2 | Spesso (30–79%) | In 2 condizioni |
| SLC25A22solute carrier family 25 member 22 | Spesso (30–79%) | In 2 condizioni |
| SLC35A2solute carrier family 35 member A2 | Spesso (30–79%) | In 2 condizioni |
| SLC35B2solute carrier family 35 member B2 | Spesso (30–79%) | In 1 condizione |
| SLC35C1solute carrier family 35 member C1 | Spesso (30–79%) | In 1 condizione |
| SLC39A14solute carrier family 39 member 14 | Spesso (30–79%) | In 2 condizioni |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Spesso (30–79%) | In 1 condizione |
| SOX10SRY-box transcription factor 10 | Spesso (30–79%) | In 1 condizione |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Spesso (30–79%) | In 2 condizioni |
| TANGO2transport and golgi organization 2 homolog | Spesso (30–79%) | In 1 condizione |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Spesso (30–79%) | In 1 condizione |
| TMX2thioredoxin related transmembrane protein 2 | Spesso (30–79%) | In 1 condizione |
| TPI1triosephosphate isomerase 1 | Spesso (30–79%) | In 1 condizione |
| TRAPPC11trafficking protein particle complex subunit 11 | Spesso (30–79%) | In 2 condizioni |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Spesso (30–79%) | In 1 condizione |
| TRNT1tRNA nucleotidyl transferase 1 | Spesso (30–79%) | In 1 condizione |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Spesso (30–79%) | In 1 condizione |
| UBA5ubiquitin like modifier activating enzyme 5 | Spesso (30–79%) | In 2 condizioni |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Spesso (30–79%) | In 2 condizioni |
| WDR73WD repeat domain 73 | Spesso (30–79%) | In 1 condizione |
| WWOXWW domain containing oxidoreductase | Spesso (30–79%) | In 1 condizione |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Spesso (30–79%) | In 1 condizione |
| ADNPactivity dependent neuroprotector homeobox | A volte (5–29%) | In 1 condizione |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | A volte (5–29%) | In 2 condizioni |
| ALG11ALG11 alpha-1,2-mannosyltransferase | A volte (5–29%) | In 1 condizione |
| AP3B2adaptor related protein complex 3 subunit beta 2 | A volte (5–29%) | In 2 condizioni |
| APC2APC regulator of Wnt signaling pathway 2 | A volte (5–29%) | In 1 condizione |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | A volte (5–29%) | In 2 condizioni |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | A volte (5–29%) | In 1 condizione |
| ATP6V1AATPase H+ transporting V1 subunit A | A volte (5–29%) | In 2 condizioni |
| BOLA3bolA family member 3 | A volte (5–29%) | In 1 condizione |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | A volte (5–29%) | In 2 condizioni |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | A volte (5–29%) | In 1 condizione |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | A volte (5–29%) | In 2 condizioni |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | A volte (5–29%) | In 1 condizione |
| CARS1cysteinyl-tRNA synthetase 1 | A volte (5–29%) | In 1 condizione |
| CELF2CUGBP Elav-like family member 2 | A volte (5–29%) | In 1 condizione |
| CLTCclathrin heavy chain | A volte (5–29%) | In 1 condizione |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | A volte (5–29%) | In 1 condizione |
| CNTNAP2contactin associated protein 2 | A volte (5–29%) | In 1 condizione |
| COASYCoenzyme A synthase | A volte (5–29%) | In 1 condizione |
| COG5component of oligomeric golgi complex 5 | A volte (5–29%) | In 1 condizione |
| COG6component of oligomeric golgi complex 6 | A volte (5–29%) | In 1 condizione |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | A volte (5–29%) | In 2 condizioni |
| DALRD3DALR anticodon binding domain containing 3 | A volte (5–29%) | In 1 condizione |
| DDX3XDEAD-box helicase 3 X-linked | A volte (5–29%) | In 1 condizione |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | A volte (5–29%) | In 1 condizione |
| DHDDSdehydrodolichyl diphosphate synthase subunit | A volte (5–29%) | In 1 condizione |
| DNM1dynamin 1 | A volte (5–29%) | In 1 condizione |
| DNMT1DNA methyltransferase 1 | A volte (5–29%) | In 2 condizioni |
| DOCK6dedicator of cytokinesis 6 | A volte (5–29%) | In 1 condizione |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | A volte (5–29%) | In 1 condizione |
| DPYDdihydropyrimidine dehydrogenase | A volte (5–29%) | In 2 condizioni |
| EPG5ectopic P-granules 5 autophagy tethering factor | A volte (5–29%) | In 1 condizione |
| FEM1Bfem-1 homolog B | A volte (5–29%) | In 1 condizione |
| FGF12fibroblast growth factor 12 | A volte (5–29%) | In 1 condizione |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | A volte (5–29%) | In 1 condizione |
| FOXG1forkhead box G1 | A volte (5–29%) | In 1 condizione |
| FZR1fizzy and cell division cycle 20 related 1 | A volte (5–29%) | In 1 condizione |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | A volte (5–29%) | In 1 condizione |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | A volte (5–29%) | In 1 condizione |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | A volte (5–29%) | In 1 condizione |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | A volte (5–29%) | In 1 condizione |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | A volte (5–29%) | In 1 condizione |
| GAD1glutamate decarboxylase 1 | A volte (5–29%) | In 1 condizione |
| GCDHglutaryl-CoA dehydrogenase | A volte (5–29%) | In 1 condizione |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | A volte (5–29%) | In 1 condizione |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | A volte (5–29%) | In 2 condizioni |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | A volte (5–29%) | In 2 condizioni |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | A volte (5–29%) | In 1 condizione |
| HDAC4histone deacetylase 4 | A volte (5–29%) | In 1 condizione |
| HEXBhexosaminidase subunit beta | A volte (5–29%) | In 1 condizione |
| HNF1BHNF1 homeobox B | A volte (5–29%) | In 1 condizione |
| IRF2BPLinterferon regulatory factor 2 binding protein like | A volte (5–29%) | In 1 condizione |
| KCNA2potassium voltage-gated channel subfamily A member 2 | A volte (5–29%) | In 1 condizione |
| KCNB1potassium voltage-gated channel subfamily B member 1 | A volte (5–29%) | In 1 condizione |
| KCNC2potassium voltage-gated channel subfamily C member 2 | A volte (5–29%) | In 1 condizione |
| KCNH5potassium voltage-gated channel subfamily H member 5 | A volte (5–29%) | In 2 condizioni |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | A volte (5–29%) | In 1 condizione |
| KIF1Ckinesin family member 1C | A volte (5–29%) | In 2 condizioni |
| KIF26Akinesin family member 26A | A volte (5–29%) | In 1 condizione |
| KIF7kinesin family member 7 | A volte (5–29%) | In 1 condizione |
| LHX1LIM homeobox 1 | A volte (5–29%) | In 1 condizione |
| LIASlipoic acid synthetase | A volte (5–29%) | In 1 condizione |
| LYRM7LYR motif containing 7 | A volte (5–29%) | In 1 condizione |
| MAFMAF bZIP transcription factor | A volte (5–29%) | In 1 condizione |
| MECP2methyl-CpG binding protein 2 | A volte (5–29%) | In 1 condizione |
| MECRmitochondrial trans-2-enoyl-CoA reductase | A volte (5–29%) | In 1 condizione |
| MED25mediator complex subunit 25 | A volte (5–29%) | In 2 condizioni |
| MED27mediator complex subunit 27 | A volte (5–29%) | In 1 condizione |
| MMACHCmetabolism of cobalamin associated C | A volte (5–29%) | In 1 condizione |
| MORC2MORC family CW-type zinc finger 2 | A volte (5–29%) | In 1 condizione |
| MYT1Lmyelin transcription factor 1 like | A volte (5–29%) | In 1 condizione |
| NACC1nucleus accumbens associated 1 | A volte (5–29%) | In 2 condizioni |
| NALCNsodium leak channel, non-selective | A volte (5–29%) | In 1 condizione |
| NECAP1NECAP endocytosis associated 1 | A volte (5–29%) | In 1 condizione |
| NFIXnuclear factor I X | A volte (5–29%) | In 2 condizioni |
| NKX6-2NK6 homeobox 2 | A volte (5–29%) | In 1 condizione |
| NODALnodal growth differentiation factor | A volte (5–29%) | In 1 condizione |
| NSD1nuclear receptor binding SET domain protein 1 | A volte (5–29%) | In 1 condizione |
| NTRK2neurotrophic receptor tyrosine kinase 2 | A volte (5–29%) | In 1 condizione |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | A volte (5–29%) | In 1 condizione |
| OFD1OFD1 centriole and centriolar satellite protein | A volte (5–29%) | In 1 condizione |
| OPLAH5-oxoprolinase, ATP-hydrolysing | A volte (5–29%) | In 1 condizione |
| PACS2phosphofurin acidic cluster sorting protein 2 | A volte (5–29%) | In 1 condizione |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | A volte (5–29%) | In 1 condizione |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | A volte (5–29%) | In 1 condizione |
| POLA1DNA polymerase alpha 1, catalytic subunit | A volte (5–29%) | In 1 condizione |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | A volte (5–29%) | In 2 condizioni |
| PRKNparkin RBR E3 ubiquitin protein ligase | A volte (5–29%) | In 1 condizione |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | A volte (5–29%) | In 1 condizione |
| RFC4replication factor C subunit 4 | A volte (5–29%) | In 1 condizione |
| RNU2-2RNA, U2 small nuclear 2 | A volte (5–29%) | In 1 condizione |
| RNU7-1RNA, U7 small nuclear 1 | A volte (5–29%) | In 1 condizione |
| RRM1ribonucleotide reductase catalytic subunit M1 | A volte (5–29%) | In 1 condizione |
| RTTNrotatin | A volte (5–29%) | In 1 condizione |
| SCN3Asodium voltage-gated channel alpha subunit 3 | A volte (5–29%) | In 1 condizione |
| SLC13A5solute carrier family 13 member 5 | A volte (5–29%) | In 1 condizione |
| SLC2A3solute carrier family 2 member 3 | A volte (5–29%) | In 1 condizione |
| SLC32A1solute carrier family 32 member 1 | A volte (5–29%) | In 1 condizione |
| SLC38A3solute carrier family 38 member 3 | A volte (5–29%) | In 1 condizione |
| SLC39A8solute carrier family 39 member 8 | A volte (5–29%) | In 1 condizione |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | A volte (5–29%) | In 1 condizione |
| STAG1STAG1 cohesin complex component | A volte (5–29%) | In 1 condizione |
| SYNGAP1synaptic Ras GTPase activating protein 1 | A volte (5–29%) | In 1 condizione |
| SYNJ1synaptojanin 1 | A volte (5–29%) | In 1 condizione |
| SYT2synaptotagmin 2 | A volte (5–29%) | In 1 condizione |
| SZT2SZT2 subunit of KICSTOR complex | A volte (5–29%) | In 1 condizione |
| TAF2TATA-box binding protein associated factor 2 | A volte (5–29%) | In 2 condizioni |
| TK2thymidine kinase 2 | A volte (5–29%) | In 2 condizioni |
| TOP3ADNA topoisomerase III alpha | A volte (5–29%) | In 1 condizione |
| TP53RKTP53 regulating kinase | A volte (5–29%) | In 1 condizione |
| TRAF7TNF receptor associated factor 7 | A volte (5–29%) | In 1 condizione |
| TRAK1trafficking kinesin protein 1 | A volte (5–29%) | In 1 condizione |
| TSEN2tRNA splicing endonuclease subunit 2 | A volte (5–29%) | In 1 condizione |
| UFSP2UFM1 specific peptidase 2 | A volte (5–29%) | In 1 condizione |
| UNC13Aunc-13 homolog A | A volte (5–29%) | In 1 condizione |
| UNC80unc-80 subunit of NALCN channel complex | A volte (5–29%) | In 1 condizione |
| UPB1beta-ureidopropionase 1 | A volte (5–29%) | In 1 condizione |
| VPS4Avacuolar protein sorting 4 homolog A | A volte (5–29%) | In 1 condizione |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | A volte (5–29%) | In 1 condizione |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | A volte (5–29%) | In 1 condizione |
| ZFXzinc finger protein X-linked | A volte (5–29%) | In 1 condizione |
| ATAD1ATPase family AAA domain containing 1 | Raramente (1–4%) | In 1 condizione |
| CLCN4Cl-/H+ antiporter 4 | Raramente (1–4%) | In 1 condizione |
| CTCFCCCTC-binding factor | Raramente (1–4%) | In 1 condizione |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Raramente (1–4%) | In 1 condizione |
| GLE1GLE1 RNA export mediator | Raramente (1–4%) | In 1 condizione |
| PDHXpyruvate dehydrogenase complex component X | Raramente (1–4%) | In 1 condizione |
| ACY1aminoacylase 1 | Non registrato | In 1 condizione |
| ADPRSADP-ribosylserine hydrolase | Non registrato | In 1 condizione |
| AGAaspartylglucosaminidase | Non registrato | In 1 condizione |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Non registrato | In 1 condizione |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Non registrato | In 1 condizione |
| ATN1atrophin 1 | Non registrato | In 1 condizione |
| ATRXATRX chromatin remodeler | Non registrato | In 1 condizione |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Non registrato | In 1 condizione |
| B3GLCTbeta 3-glucosyltransferase | Non registrato | In 1 condizione |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Non registrato | In 1 condizione |
| C9orf72C9orf72-SMCR8 complex subunit | Non registrato | In 1 condizione |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Non registrato | In 1 condizione |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Non registrato | In 1 condizione |
| CLN6CLN6 transmembrane ER protein | Non registrato | In 1 condizione |
| CNTNAP1contactin associated protein 1 | Non registrato | In 1 condizione |
| COG4component of oligomeric golgi complex 4 | Non registrato | In 1 condizione |
| CTDP1CTD phosphatase 1 | Non registrato | In 1 condizione |
| CTNScystinosin, lysosomal cystine transporter | Non registrato | In 1 condizione |
| DGUOKdeoxyguanosine kinase | Non registrato | In 1 condizione |
| DHFRdihydrofolate reductase | Non registrato | In 1 condizione |
| DMPKDM1 protein kinase | Non registrato | In 1 condizione |
| DSEdermatan sulfate epimerase | Non registrato | In 1 condizione |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Non registrato | In 1 condizione |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Non registrato | In 1 condizione |
| EXOSC3exosome component 3 | Non registrato | In 1 condizione |
| EXOSC9exosome component 9 | Non registrato | In 1 condizione |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Non registrato | In 1 condizione |
| FGF13fibroblast growth factor 13 | Non registrato | In 1 condizione |
| FRRS1Lferric chelate reductase 1 like | Non registrato | In 1 condizione |
| FUCA1alpha-L-fucosidase 1 | Non registrato | In 1 condizione |
| GBA1glucosylceramidase beta 1 | Non registrato | In 1 condizione |
| GJC2gap junction protein gamma 2 | Non registrato | In 1 condizione |
| GLB1galactosidase beta 1 | Non registrato | In 1 condizione |
| HEPACAMhepatic and glial cell adhesion molecule | Non registrato | In 1 condizione |
| HRASHRas proto-oncogene, GTPase | Non registrato | In 1 condizione |
| HTRA2HtrA serine peptidase 2 | Non registrato | In 1 condizione |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Non registrato | In 1 condizione |
| ITPAinosine triphosphatase | Non registrato | In 1 condizione |
| KANK1KN motif and ankyrin repeat domains 1 | Non registrato | In 1 condizione |
| KYkyphoscoliosis peptidase | Non registrato | In 1 condizione |
| MFSD8major facilitator superfamily domain containing 8 | Non registrato | In 1 condizione |
| MOCS1molybdenum cofactor synthesis 1 | Non registrato | In 1 condizione |
| MOCS2molybdenum cofactor synthesis 2 | Non registrato | In 1 condizione |
| MOGSmannosyl-oligosaccharide glucosidase | Non registrato | In 1 condizione |
| MPDU1mannose-P-dolichol utilization defect 1 | Non registrato | In 1 condizione |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Non registrato | In 1 condizione |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Non registrato | In 1 condizione |
| MVKmevalonate kinase | Non registrato | In 1 condizione |
| NAGAalpha-N-acetylgalactosaminidase | Non registrato | In 1 condizione |
| NRROSnegative regulator of reactive oxygen species | Non registrato | In 1 condizione |
| NUP214nucleoporin 214 | Non registrato | In 1 condizione |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Non registrato | In 1 condizione |
| PCCApropionyl-CoA carboxylase subunit alpha | Non registrato | In 1 condizione |
| PCCBpropionyl-CoA carboxylase subunit beta | Non registrato | In 1 condizione |
| PCK1phosphoenolpyruvate carboxykinase 1 | Non registrato | In 1 condizione |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Non registrato | In 1 condizione |
| PLK4polo like kinase 4 | Non registrato | In 1 condizione |
| PPT1palmitoyl-protein thioesterase 1 | Non registrato | In 1 condizione |
| PQBP1polyglutamine binding protein 1 | Non registrato | In 1 condizione |
| PUF60poly(U) binding splicing factor 60 | Non registrato | In 1 condizione |
| PYCR2pyrroline-5-carboxylate reductase 2 | Non registrato | In 1 condizione |
| QARS1glutaminyl-tRNA synthetase 1 | Non registrato | In 1 condizione |
| RAB23RAB23, member RAS oncogene family | Non registrato | In 1 condizione |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Non registrato | In 1 condizione |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Non registrato | In 1 condizione |
| RNASEH2Aribonuclease H2 subunit A | Non registrato | In 1 condizione |
| RNASEH2Bribonuclease H2 subunit B | Non registrato | In 1 condizione |
| ROGDIrogdi atypical leucine zipper | Non registrato | In 1 condizione |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Non registrato | In 1 condizione |
| SERPINI1serpin family I member 1 | Non registrato | In 1 condizione |
| SETBP1SET binding protein 1 | Non registrato | In 1 condizione |
| SLC17A5solute carrier family 17 member 5 | Non registrato | In 1 condizione |
| SLC1A4solute carrier family 1 member 4 | Non registrato | In 1 condizione |
| SLC2A1solute carrier family 2 member 1 | Non registrato | In 1 condizione |
| SMG9SMG9 nonsense mediated mRNA decay factor | Non registrato | In 1 condizione |
| SNORD118small nucleolar RNA, C/D box 118 | Non registrato | In 1 condizione |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Non registrato | In 1 condizione |
| STAMBPSTAM binding protein | Non registrato | In 1 condizione |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Non registrato | In 1 condizione |
| SUMF1sulfatase modifying factor 1 | Non registrato | In 1 condizione |
| TBCKTBC1 domain containing kinase | Non registrato | In 1 condizione |
| TCTN3tectonic family member 3 | Non registrato | In 1 condizione |
| TOE1target of EGR1, exonuclease | Non registrato | In 1 condizione |
| TPP1tripeptidyl peptidase 1 | Non registrato | In 1 condizione |
| TREM2triggering receptor expressed on myeloid cells 2 | Non registrato | In 1 condizione |
| TREX1three prime repair exonuclease 1 | Non registrato | In 1 condizione |
| TRIT1tRNA isopentenyltransferase 1 | Non registrato | In 1 condizione |
| TTC19tetratricopeptide repeat domain 19 | Non registrato | In 1 condizione |
| TUBGCP6tubulin gamma complex component 6 | Non registrato | In 1 condizione |
| TWNKtwinkle mtDNA helicase | Non registrato | In 1 condizione |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Non registrato | In 1 condizione |
| UFM1ubiquitin fold modifier 1 | Non registrato | In 1 condizione |
| WFS1wolframin ER transmembrane glycoprotein | Non registrato | In 1 condizione |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Non registrato | In 1 condizione |
| WNK3WNK lysine deficient protein kinase 3 | Non registrato | In 1 condizione |
| ZC4H2zinc finger C4H2-type containing | Non registrato | In 1 condizione |
| ZMIZ1zinc finger MIZ-type containing 1 | Non registrato | In 1 condizione |
| ZNF335zinc finger protein 335 | Non registrato | In 1 condizione |
Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.
Tratti più specifici
Tratti più generali
Fonte dei dati
- Human Phenotype Ontology, versione 2026-09-01: il tratto, i suoi nomi, la sua definizione e i geni a esso collegati. Per saperne di più visiti hpo.jax.org.
- Versione dei dati 2026.10.19-9814e911.
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