AtlasVoor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagLaat uw genoom in kaart brengen↗
Kenmerk
Dementia
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Samenvatting
- Ook bekend als
- Dementia, progressive, Progressive dementia
- Lichaamssysteem
- Abnormality of the nervous system
AtlasVoor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagLaat uw genoom in kaart brengen↗
Deze pagina als gegevens
Voeg .json toe aan het adres van de pagina, of vraag application/json aan, om haar als JSON te lezen.
library(jsonlite)
url <- "https://dantelabs.com/traits/dementia.json"
page <- fromJSON(url)
page$trait$nameDementiaHP:0000726
AtlasVoor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagLaat uw genoom in kaart brengen↗
Lees de genen die aan Dementia gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen108 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.
- Inherited Neurodegenerative DisordersReads 79 of these genesAARS1ABCB7ATP13A2CTSFCYLDDNAJC5About this report →
- Parkinson DiseaseReads 13 of these genesATP13A2VPS13CGBA1MAPTDNAJC6FBXO7About this report →
- Basal Ganglia CalcificationReads 7 of these genesJAM2MYORGNAA60PDGFBPDGFRBSLC20A2About this report →
- Lysosomal Storage DiseaseReads 18 of these genesCTSFDNAJC5ARSACLN6GBA1GRNAbout this report →
Show 104 more reports
- Alzheimer diseaseReads 5 of these genesTREM2APPPSEN1PSEN2APOEAbout this report →
- Neuronal Ceroid LipofuscinosisReads 8 of these genesATP13A2CTSFDNAJC5CLN6GRNCLN8About this report →
- Rare Hereditary Peripheral NeuropathiesReads 32 of these genesAARS1MT-ND1MT-ND4MT-ND5MT-ND6ARSAAbout this report →
- Frontotemporal DementiaReads 7 of these genesCYLDPSEN1CHMP2BGRNMAPTVCPAbout this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 6 of these genesATP13A2WDR45PANK2C19orf12CPFTLAbout this report →
- Cerebral Amyloid AngiopathyReads 3 of these genesAPPCST3ITM2BAbout this report →
- Hereditary Optic NeuropathyReads 6 of these genesMT-ND1MT-ND4MT-ND5MT-ND6DNM1LOPA1About this report →
- Other Inherited LeukodystrophiesReads 14 of these genesAARS1GPRC5BTREM2TYROBPARSAPSAPAbout this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 3 of these genesTREM2TYROBPLMNB1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 8 of these genesCYLDCHMP2BVCPDCTN1MATR3SPG11About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 2 of these genesHTRA1NOTCH3About this report →
- Metachromatic LeukodystrophyReads 2 of these genesARSAPSAPAbout this report →
- Niemann-Pick Disease Type CReads 2 of these genesNPC1NPC2About this report →
- Wolfram Syndrome & WFS1 SpectrumReads 2 of these genesWFS1CISD2About this report →
- Hereditary Spastic ParaplegiaReads 11 of these genesATP13A2GBA2SPG21ALDH18A1PNPLA6SPG11About this report →
- Leigh SyndromeReads 11 of these genesMT-ND1MT-ND4MT-ND5MT-ND6MT-ATP6NDUFA1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 7 of these genesTBPATN1ATXN2DNMT1PPP2R2BATXN10About this report →
- Hereditary AmyloidosisReads 4 of these genesAPPCST3ITM2BTTRAbout this report →
- Neuroacanthocytosis and Huntington Disease PhenocopiesReads 2 of these genesJPH3VPS13AAbout this report →
- Epilepsy (Full Panel)Reads 15 of these genesAARS1CERS1WDR45ATP6V1ASLC13A5CSTBAbout this report →
- Malignant Endocrine NeoplasmReads 3 of these genesSDHASDHBTP53About this report →
- Cutis LaxaReads 4 of these genesATP6V0A2ATP6V1AATP6V1E1ALDH18A1About 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 →
- Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Types A and B)Reads 1 of these genesSMPD1About this report →
- Cerebrotendinous XanthomatosisReads 1 of these genesCYP27A1About this report →
- Chediak-Higashi syndromeReads 1 of these genesLYSTAbout this report →
- COL4A1-Related DisorderReads 1 of these genesCOL4A1About this report →
- CYLD Cutaneous SyndromeReads 1 of these genesCYLDAbout this report →
- Deafness-Dystonia-Optic Neuronopathy SyndromeReads 1 of these genesTIMM8AAbout this report →
- Deficiency of Adenosine Deaminase 2 (DADA2)Reads 1 of these genesADA2About this report →
- DNMT1-Related Ataxia, Deafness and Narcolepsy (ADCA-DN)Reads 1 of these genesDNMT1About this report →
- Fragile X SyndromeReads 1 of these genesFMR1About this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- Genetic Prion Disease (incl. Fatal Familial Insomnia)Reads 1 of these genesPRNPAbout this report →
- Huntington DiseaseReads 1 of these genesHTTAbout this report →
- IFAP Syndrome (MBTPS2)Reads 1 of these genesMBTPS2About this report →
- Kohlschütter-Tönz SyndromeReads 1 of these genesROGDIAbout this report →
- Krabbe DiseaseReads 1 of these genesGALCAbout this report →
- Li-Fraumeni SyndromeReads 1 of these genesTP53About this report →
- OPA1-Related Optic AtrophyReads 1 of these genesOPA1About this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- PNPLA6-Related Ataxia, Retinal Dystrophy and HypogonadismReads 1 of these genesPNPLA6About this report →
- Primary Microcephaly 26 (LMNB1)Reads 1 of these genesLMNB1About this report →
- Tay-Sachs DiseaseReads 1 of these genesHEXAAbout this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- Wilson DiseaseReads 1 of these genesATP7BAbout this report →
- X-Linked Adrenoleukodystrophy (ABCD1)Reads 1 of these genesABCD1About this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 3 of these genesSDHASDHBSDHDAbout this report →
- Homocystinuria & Cobalamin DisordersReads 4 of these genesCBLIFMMACHCCUBNPRDX1About this report →
- Urinary and Renal System TumourReads 3 of these genesSDHASDHBTP53About this report →
- Primary Mitochondrial DiseaseReads 9 of these genesNDUFA1AARS2DGUOKPOLGRRM2BTWNKAbout this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesDNM1LAbout this report →
- Hereditary FibromatosesReads 1 of these genesPDGFRBAbout this report →
- Sandhoff Disease and GM2 Activator DeficiencyReads 1 of these genesGM2AAbout this report →
- Kidney CancerReads 2 of these genesSDHBTP53About this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7BAbout this report →
- Megalencephalic Leukoencephalopathy with Subcortical CystsReads 1 of these genesGPRC5BAbout this report →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 1 of these genesIRF6About this report →
- Charcot-Marie-Tooth DiseaseReads 5 of these genesAARS1VCPDCTN1SPG11MMEAbout this report →
- Methylmalonic & Propionic AcidemiaReads 2 of these genesMMACHCPRDX1About this report →
- Osteogenesis ImperfectaReads 3 of these genesATP6V0A2MBTPS2PPIBAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 3 of these genesTUBB4ANR4A2PDE10AAbout this report →
- Hereditary Gastrointestinal Stromal TumourReads 1 of these genesSDHBAbout this report →
- Inherited Fibrinolytic DisordersReads 1 of these genesPLAUAbout this report →
- Inherited Iron Metabolism DisordersReads 1 of these genesCPAbout this report →
- Distal MyopathiesReads 2 of these genesVCPMATR3About this report →
- DNA Repair DiseaseReads 3 of these genesERCC4APTXERCC8About this report →
- Hereditary Congenital & Juvenile CataractReads 2 of these genesWFS1FTLAbout this report →
- Female InfertilityReads 3 of these genesFMR1TUBA4ATWNKAbout this report →
- Hereditary Orofacial CleftingReads 1 of these genesIRF6About this report →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Vanishing White Matter DiseaseReads 1 of these genesAARS2About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesTMEM106BTUBB4AAbout this report →
- Spinal Muscular AtrophyReads 2 of these genesDCTN1ASAH1About this report →
- Classic Organic AciduriasReads 1 of these genesGCDHAbout this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesTREX1About this report →
- Familial Glucocorticoid DeficiencyReads 1 of these genesNR3C1About this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesABCB7About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 2 of these genesADA2TREX1About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesDLATAbout this report →
- Hearing Loss and DeafnessReads 3 of these genesWFS1CDH23USP48About this report →
- Familial HypomagnesemiaReads 1 of these genesTRPM7About this report →
- Usher SyndromeReads 1 of these genesCDH23About this report →
- Type I InterferonopathiesReads 1 of these genesTREX1About this report →
- HyperlipidemiaReads 1 of these genesAPOEAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesTWNKCYP27A1About this report →
- Glycogen Storage DiseaseReads 1 of these genesGBE1About this report →
- Fanconi AnemiaReads 1 of these genesERCC4About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesATRXAbout this report →
- Autoimmune DiseaseReads 1 of these genesTREX1About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesDNMT1About this report →
- Noonan SyndromeReads 1 of these genesBRAFAbout this report →
- Congenital Disorders of GlycosylationReads 2 of these genesATP6V0A2KCTD7About this report →
- VitreoretinopathyReads 1 of these genesNDPAbout this report →
- Nephrotic SyndromeReads 1 of these genesPODXLAbout this report →
- Diabetes MellitusReads 1 of these genesMT-TL1About this report →
- Inherited ThrombocytopeniasReads 1 of these genesPLAUAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesMBTPS2About this report →
- Male InfertilityReads 1 of these genesCFAP43About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesRNF216About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesTREX1LYSTAbout this report →
- Intellectual DisabilityReads 2 of these genesRAB39BATRXAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesBRAFAbout this report →
Lees de genen die aan Dementia gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen195 genen gekoppeld aan Dementia
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Dementia voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| ABCB7ATP binding cassette subfamily B member 7 | Altijd | In 1 aandoening |
| ATP13A2ATPase cation transporting 13A2 | Altijd | In 4 aandoeningen |
| CERS1ceramide synthase 1 | Altijd | In 1 aandoening |
| CTSFcathepsin F | Altijd | In 1 aandoening |
| CYLDCYLD lysine 63 deubiquitinase | Altijd | In 1 aandoening |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Altijd | In 1 aandoening |
| GBA2glucosylceramidase beta 2 | Altijd | In 2 aandoeningen |
| GPRC5BG protein-coupled receptor class C group 5 member B | Altijd | In 1 aandoening |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Altijd | In 1 aandoening |
| PRNPprion protein (Kanno blood group) | Altijd | In 9 aandoeningen |
| SPG21SPG21 abhydrolase domain containing, maspardin | Altijd | In 2 aandoeningen |
| TBPTATA-box binding protein | Altijd | In 2 aandoeningen |
| TREM2triggering receptor expressed on myeloid cells 2 | Altijd | In 5 aandoeningen |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Altijd | In 1 aandoening |
| VPS13Cvacuolar protein sorting 13 homolog C | Altijd | In 2 aandoeningen |
| WDR45WD repeat domain 45 | Altijd | In 2 aandoeningen |
| APPamyloid beta precursor protein | Heel vaak (80–99%) | In 7 aandoeningen |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Heel vaak (80–99%) | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Heel vaak (80–99%) | In 1 aandoening |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Heel vaak (80–99%) | In 1 aandoening |
| FMR1fragile X messenger ribonucleoprotein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| HTRA1HtrA serine peptidase 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Heel vaak (80–99%) | In 2 aandoeningen |
| PSEN1presenilin 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| PSEN2presenilin 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| ROGDIrogdi atypical leucine zipper | Heel vaak (80–99%) | In 2 aandoeningen |
Toon nog 155 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| SLC13A5solute carrier family 13 member 5 | Heel vaak (80–99%) | In 1 aandoening |
| SORL1sortilin related receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| TOMM40translocase of outer mitochondrial membrane 40 | Heel vaak (80–99%) | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Heel vaak (80–99%) | In 2 aandoeningen |
| ADA2adenosine deaminase 2 | Vaak (30–79%) | In 1 aandoening |
| APOEapolipoprotein E | Vaak (30–79%) | In 3 aandoeningen |
| ARSAarylsulfatase A | Vaak (30–79%) | In 1 aandoening |
| ATN1atrophin 1 | Vaak (30–79%) | In 2 aandoeningen |
| ATXN2ataxin 2 | Vaak (30–79%) | In 3 aandoeningen |
| CBLIFcobalamin binding intrinsic factor | Vaak (30–79%) | In 1 aandoening |
| CHMP2Bcharged multivesicular body protein 2B | Vaak (30–79%) | In 1 aandoening |
| CLN6CLN6 transmembrane ER protein | Vaak (30–79%) | In 1 aandoening |
| CMPK2cytidine/uridine monophosphate kinase 2 | Vaak (30–79%) | In 1 aandoening |
| CSTBcystatin B | Vaak (30–79%) | In 2 aandoeningen |
| DNMT1DNA methyltransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| EPG5ectopic P-granules 5 autophagy tethering factor | Vaak (30–79%) | In 1 aandoening |
| EPM2AEPM2A glucan phosphatase, laforin | Vaak (30–79%) | In 2 aandoeningen |
| GBA1glucosylceramidase beta 1 | Vaak (30–79%) | In 5 aandoeningen |
| GRNgranulin precursor | Vaak (30–79%) | In 1 aandoening |
| HTThuntingtin | Vaak (30–79%) | In 2 aandoeningen |
| JAM2junctional adhesion molecule 2 | Vaak (30–79%) | In 1 aandoening |
| MAPTmicrotubule associated protein tau | Vaak (30–79%) | In 5 aandoeningen |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| MYORGmyogenesis regulating glycosidase | Vaak (30–79%) | In 1 aandoening |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Vaak (30–79%) | In 1 aandoening |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Vaak (30–79%) | In 2 aandoeningen |
| NOTCH2NLCnotch 2 N-terminal like C | Vaak (30–79%) | In 2 aandoeningen |
| NOTCH3notch receptor 3 | Vaak (30–79%) | In 2 aandoeningen |
| PANK2pantothenate kinase 2 | Vaak (30–79%) | In 1 aandoening |
| PDGFBplatelet derived growth factor subunit B | Vaak (30–79%) | In 2 aandoeningen |
| PDGFRBplatelet derived growth factor receptor beta | Vaak (30–79%) | In 2 aandoeningen |
| PSAPprosaposin | Vaak (30–79%) | In 1 aandoening |
| RNF216ring finger protein 216 | Vaak (30–79%) | In 2 aandoeningen |
| RRP12ribosomal RNA processing 12 homolog | Vaak (30–79%) | In 1 aandoening |
| SLC20A2solute carrier family 20 member 2 | Vaak (30–79%) | In 1 aandoening |
| TMEM106Btransmembrane protein 106B | Vaak (30–79%) | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Vaak (30–79%) | In 1 aandoening |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Vaak (30–79%) | In 1 aandoening |
| VCPvalosin containing protein | Vaak (30–79%) | In 2 aandoeningen |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Vaak (30–79%) | In 2 aandoeningen |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Soms (5–29%) | In 2 aandoeningen |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Soms (5–29%) | In 1 aandoening |
| CISD2CDGSH iron sulfur domain 2 | Soms (5–29%) | In 1 aandoening |
| CLN8CLN8 transmembrane ER and ERGIC protein | Soms (5–29%) | In 1 aandoening |
| COL4A1collagen type IV alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| DCTN1dynactin subunit 1 | Soms (5–29%) | In 1 aandoening |
| DGUOKdeoxyguanosine kinase | Soms (5–29%) | In 2 aandoeningen |
| DLATdihydrolipoamide S-acetyltransferase | Soms (5–29%) | In 1 aandoening |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Soms (5–29%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| FBXO7F-box protein 7 | Soms (5–29%) | In 1 aandoening |
| GALCgalactosylceramidase | Soms (5–29%) | In 1 aandoening |
| GBE11,4-alpha-glucan branching enzyme 1 | Soms (5–29%) | In 1 aandoening |
| GCDHglutaryl-CoA dehydrogenase | Soms (5–29%) | In 1 aandoening |
| HTRA2HtrA serine peptidase 2 | Soms (5–29%) | In 1 aandoening |
| JPH3junctophilin 3 | Soms (5–29%) | In 2 aandoeningen |
| KCTD7potassium channel tetramerization domain containing 7 | Soms (5–29%) | In 1 aandoening |
| LRRK2leucine rich repeat kinase 2 | Soms (5–29%) | In 3 aandoeningen |
| LYSTlysosomal trafficking regulator | Soms (5–29%) | In 1 aandoening |
| MATR3matrin 3 | Soms (5–29%) | In 2 aandoeningen |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Soms (5–29%) | In 1 aandoening |
| PARK7Parkinsonism associated deglycase | Soms (5–29%) | In 1 aandoening |
| PINK1PTEN induced kinase 1 | Soms (5–29%) | In 2 aandoeningen |
| PNPLA6patatin like domain 6, lysophospholipase | Soms (5–29%) | In 1 aandoening |
| PODXLpodocalyxin like | Soms (5–29%) | In 1 aandoening |
| POLGDNA polymerase gamma, catalytic subunit | Soms (5–29%) | In 3 aandoeningen |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Soms (5–29%) | In 2 aandoeningen |
| PRICKLE1prickle planar cell polarity protein 1 | Soms (5–29%) | In 1 aandoening |
| PRKNparkin RBR E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| RAB39BRAB39B, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Soms (5–29%) | In 2 aandoeningen |
| SCARB2scavenger receptor class B member 2 | Soms (5–29%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| SNCAsynuclein alpha | Soms (5–29%) | In 6 aandoeningen |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Soms (5–29%) | In 1 aandoening |
| SYNJ1synaptojanin 1 | Soms (5–29%) | In 1 aandoening |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Soms (5–29%) | In 1 aandoening |
| TUBA4Atubulin alpha 4a | Soms (5–29%) | In 1 aandoening |
| TUBB4Atubulin beta 4A class IVa | Soms (5–29%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Soms (5–29%) | In 2 aandoeningen |
| UCHL1ubiquitin C-terminal hydrolase L1 | Soms (5–29%) | In 1 aandoening |
| VPS13Avacuolar protein sorting 13 homolog A | Soms (5–29%) | In 1 aandoening |
| ZFYVE26zinc finger FYVE-type containing 26 | Soms (5–29%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Zelden (1–4%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Zelden (1–4%) | In 1 aandoening |
| CDH23cadherin related 23 | Zelden (1–4%) | In 1 aandoening |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Zelden (1–4%) | In 1 aandoening |
| DNM1Ldynamin 1L | Zelden (1–4%) | In 1 aandoening |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Zelden (1–4%) | In 1 aandoening |
| GIGYF2GRB10 interacting GYF protein 2 | Zelden (1–4%) | In 1 aandoening |
| LIG3DNA ligase 3 | Zelden (1–4%) | In 1 aandoening |
| LMNB1lamin B1 | Zelden (1–4%) | In 1 aandoening |
| MMACHCmetabolism of cobalamin associated C | Zelden (1–4%) | In 2 aandoeningen |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Zelden (1–4%) | In 1 aandoening |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Zelden (1–4%) | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Zelden (1–4%) | In 1 aandoening |
| PPIBpeptidylprolyl isomerase B | Zelden (1–4%) | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Zelden (1–4%) | In 1 aandoening |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Zelden (1–4%) | In 1 aandoening |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Zelden (1–4%) | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Zelden (1–4%) | In 1 aandoening |
| STARD7StAR related lipid transfer domain containing 7 | Zelden (1–4%) | In 1 aandoening |
| TP53tumor protein p53 | Zelden (1–4%) | In 1 aandoening |
| TYMPthymidine phosphorylase | Zelden (1–4%) | In 1 aandoening |
| USP48ubiquitin specific peptidase 48 | Zelden (1–4%) | In 1 aandoening |
| USP8ubiquitin specific peptidase 8 | Zelden (1–4%) | In 1 aandoening |
| VPS35VPS35 retromer complex component | Zelden (1–4%) | In 1 aandoening |
| ABCD1ATP binding cassette subfamily D member 1 | Niet vastgelegd | In 1 aandoening |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Niet vastgelegd | In 1 aandoening |
| APTXaprataxin | Niet vastgelegd | In 1 aandoening |
| ASAH1N-acylsphingosine amidohydrolase 1 | Niet vastgelegd | In 1 aandoening |
| ATP7BATPase copper transporting beta | Niet vastgelegd | In 1 aandoening |
| ATXN10ataxin 10 | Niet vastgelegd | In 1 aandoening |
| ATXN3ataxin 3 | Niet vastgelegd | In 2 aandoeningen |
| ATXN8OSATXN8 opposite strand lncRNA | Niet vastgelegd | In 1 aandoening |
| C19orf12chromosome 19 open reading frame 12 | Niet vastgelegd | In 1 aandoening |
| C9orf72C9orf72-SMCR8 complex subunit | Niet vastgelegd | In 1 aandoening |
| CFAP43cilia and flagella associated protein 43 | Niet vastgelegd | In 1 aandoening |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Niet vastgelegd | In 1 aandoening |
| CPceruloplasmin | Niet vastgelegd | In 1 aandoening |
| CPT1Ccarnitine palmitoyltransferase 1C | Niet vastgelegd | In 1 aandoening |
| CST3cystatin C | Niet vastgelegd | In 1 aandoening |
| CUBNcubilin | Niet vastgelegd | In 1 aandoening |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Niet vastgelegd | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Niet vastgelegd | In 1 aandoening |
| FTLferritin light chain | Niet vastgelegd | In 1 aandoening |
| GM2Aganglioside GM2 activator | Niet vastgelegd | In 1 aandoening |
| HEXAhexosaminidase subunit alpha | Niet vastgelegd | In 1 aandoening |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Niet vastgelegd | In 1 aandoening |
| IRF6interferon regulatory factor 6 | Niet vastgelegd | In 1 aandoening |
| ITM2Bintegral membrane protein 2B | Niet vastgelegd | In 2 aandoeningen |
| MMEmembrane metalloendopeptidase | Niet vastgelegd | In 1 aandoening |
| MPOmyeloperoxidase | Niet vastgelegd | In 1 aandoening |
| MT-CYBmitochondrially encoded cytochrome b | Niet vastgelegd | In 1 aandoening |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Niet vastgelegd | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Niet vastgelegd | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Niet vastgelegd | In 1 aandoening |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Niet vastgelegd | In 1 aandoening |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Niet vastgelegd | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Niet vastgelegd | In 1 aandoening |
| NPC1NPC intracellular cholesterol transporter 1 | Niet vastgelegd | In 1 aandoening |
| NPC2NPC intracellular cholesterol transporter 2 | Niet vastgelegd | In 1 aandoening |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Niet vastgelegd | In 1 aandoening |
| PDE10Aphosphodiesterase 10A | Niet vastgelegd | In 1 aandoening |
| PLAUplasminogen activator, urokinase | Niet vastgelegd | In 1 aandoening |
| PRDM8PR/SET domain 8 | Niet vastgelegd | In 1 aandoening |
| PRDX1peroxiredoxin 1 | Niet vastgelegd | In 1 aandoening |
| SERPINI1serpin family I member 1 | Niet vastgelegd | In 1 aandoening |
| SNCAIPsynuclein alpha interacting protein | Niet vastgelegd | In 1 aandoening |
| SNCBsynuclein beta | Niet vastgelegd | In 1 aandoening |
| SPASTspastin | Niet vastgelegd | In 1 aandoening |
| TTRtransthyretin | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.17-8666dff2.
AtlasVoor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagLaat uw genoom in kaart brengen↗
From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
Vanaf $ 449
Gratis verzending · Resultaten binnen 6–8 weken
