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Merkmal
Mental deterioration
Loss of previously present mental abilities, generally in adults.
Zusammenfassung
- Auch genannt
- Cognitive decline, Cognitive decline, progressive, Intellectual deterioration, Progressive cognitive decline
- Körpersystem
- Abnormality of the nervous system
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Diese Seite als Daten
Hängen Sie .json an die Adresse der Seite an oder fordern Sie application/json an, um sie als JSON zu lesen.
library(jsonlite)
url <- "https://dantelabs.com/traits/mental-deterioration.json"
page <- fromJSON(url)
page$trait$nameMental deteriorationHP:0001268
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AnmeldenFragenIhr Genom sequenzieren↗
Lesen Sie die Gene aus, die mit Mental deterioration zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen
Meinen Genome Test bestellen79 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 63 of these genesAARS1WDR45SLC13A5CACNA1ACHD2CPLX1About this report →
- Basal Ganglia CalcificationReads 7 of these genesJAM2MYORGNAA60PDGFBPDGFRBSLC20A2About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 8 of these genesATP13A2PLA2G6WDR45DCAF17FTH1PANK2About this report →
- Parkinson DiseaseReads 9 of these genesATP13A2PLA2G6VPS13CMAPTSYNJ1GBA1About this report →
Show 75 more reports
- Lysosomal Storage DiseaseReads 16 of these genesCLN6CTSACTSDCTSFFUCA1GALCAbout this report →
- Frontotemporal DementiaReads 7 of these genesCHMP2BGRNMAPTPSEN1SQSTM1VCPAbout this report →
- Neuronal Ceroid LipofuscinosisReads 7 of these genesATP13A2CLN6CTSDCTSFGRNCLN8About this report →
- Familial Hemiplegic MigraineReads 3 of these genesCACNA1ASCN1AATP1A2About this report →
- Megalencephalic Leukoencephalopathy with Subcortical CystsReads 3 of these genesHEPACAMGPRC5BMLC1About this report →
- Other Inherited LeukodystrophiesReads 14 of these genesAARS1PLP1POLR3KABCD1GALCHEPACAMAbout this report →
- Metachromatic LeukodystrophyReads 2 of these genesPSAPARSAAbout this report →
- Hereditary Spastic ParaplegiaReads 11 of these genesATP13A2PLP1ABCD1FA2HSPG11SPG21About this report →
- Alzheimer diseaseReads 3 of these genesAPPPSEN1TREM2About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 8 of these genesSTUB1ATXN7CACNA1ATBPTMEM240ATP1A3About this report →
- Cerebral Amyloid AngiopathyReads 2 of these genesAPPCST3About this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 2 of these genesTREM2CSF1RAbout this report →
- Carney Complex & Hereditary Adrenal Cushing SyndromeReads 2 of these genesPDE11APRKAR1AAbout this report →
- Hereditary Episodic AtaxiasReads 2 of these genesCACNA1ASCN2AAbout this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 2 of these genesGNASPRKAR1AAbout this report →
- Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Types A and B)Reads 1 of these genesSMPD1About 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 →
- Dravet SyndromeReads 1 of these genesSCN1AAbout 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 →
- Krabbe DiseaseReads 1 of these genesGALCAbout this report →
- X-Linked Adrenoleukodystrophy (ABCD1)Reads 1 of these genesABCD1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 5 of these genesCHMP2BSPG11SQSTM1VCPTBK1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 5 of these genesTSPOAP1ACTBDCAF17ATP1A3PDE10AAbout this report →
- DNA Repair DiseaseReads 5 of these genesERCC6XPANBNAPTXERCC2About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 2 of these genesCTSAFUCA1About this report →
- Age-Related Macular DegenerationReads 1 of these genesMFSD8About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesHTRA1About this report →
- Fibrodysplasia Ossificans ProgressivaReads 1 of these genesGNASAbout this report →
- Hereditary FibromatosesReads 1 of these genesPDGFRBAbout this report →
- Sandhoff Disease and GM2 Activator DeficiencyReads 1 of these genesHEXBAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 3 of these genesPLP1POLR3KTMEM106BAbout this report →
- Hereditary AmyloidosisReads 2 of these genesAPPCST3About this report →
- LipodystrophyReads 2 of these genesMFN2BSCL2About this report →
- Neuroacanthocytosis and Huntington Disease PhenocopiesReads 1 of these genesVPS13AAbout this report →
- Charcot-Marie-Tooth DiseaseReads 5 of these genesAARS1SPG11VCPMFN2BSCL2About this report →
- Familial Paget Disease of BoneReads 1 of these genesSQSTM1About this report →
- GalactosemiaReads 1 of these genesGALTAbout this report →
- Homocystinuria & Cobalamin DisordersReads 2 of these genesMTHFRMMACHCAbout this report →
- Noonan SyndromeReads 2 of these genesMAP2K1NRASAbout this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesAMACRAbout this report →
- Syndromic and Metabolic CardiomyopathiesReads 1 of these genesAGKAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 3 of these genesSTUB1GDAP2TTPAAbout this report →
- Spinal Muscular AtrophyReads 2 of these genesASAH1BSCL2About this report →
- Hepatic Porphyria DisordersReads 1 of these genesHMBSAbout this report →
- Primary Mitochondrial DiseaseReads 4 of these genesCARS2COX6B1AGKLIG3About this report →
- PorphyriaReads 1 of these genesHMBSAbout this report →
- Intellectual DisabilityReads 5 of these genesCLTCCNKSR2NUS1SYNGAP1SCN2AAbout this report →
- Hereditary Optic NeuropathyReads 1 of these genesATP1A3About this report →
- Female InfertilityReads 2 of these genesFMR1GALTAbout this report →
- Methylmalonic & Propionic AcidemiaReads 1 of these genesMMACHCAbout this report →
- Hypertrophic CardiomyopathyReads 2 of these genesMAP2K1NRASAbout this report →
- Cutis LaxaReads 1 of these genesATP6V1AAbout this report →
- Distal MyopathiesReads 1 of these genesVCPAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesDNMT1About this report →
- Dyskeratosis CongenitaReads 1 of these genesCTC1About this report →
- Hearing Loss and DeafnessReads 2 of these genesKARS1TBC1D24About this report →
- Congenital Disorders of GlycosylationReads 2 of these genesDHDDSNUS1About this report →
- VitreoretinopathyReads 1 of these genesCTC1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesERCC2About this report →
- Nephrotic SyndromeReads 1 of these genesSGPL1About this report →
- Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Thyroid CancerReads 1 of these genesGNASAbout this report →
- Inherited ThrombocytopeniasReads 1 of these genesACTBAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesMBTPS2About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesADA2About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesMBTPS2About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesDCAF17About this report →
- Leigh SyndromeReads 1 of these genesMT-TKAbout this report →
- Retinitis PigmentosaReads 1 of these genesDHDDSAbout this report →
Lesen Sie die Gene aus, die mit Mental deterioration zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen
Meinen Genome Test bestellen189 Gene mit Mental deterioration verknüpft
Veränderungen in diesen Genen verursachen seltene Erkrankungen, bei denen Mental deterioration auftritt. Die meisten Menschen mit diesem Merkmal haben keine dieser Erkrankungen, und ein Gen auf dieser Liste sagt nichts über das eigene Genom einer Person aus.
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Immer | In 2 Erkrankungen |
| ARHGEF15Rho guanine nucleotide exchange factor 15 | Immer | In 1 Erkrankung |
| ATP13A2ATPase cation transporting 13A2 | Immer | In 2 Erkrankungen |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Immer | In 1 Erkrankung |
| CLN6CLN6 transmembrane ER protein | Immer | In 1 Erkrankung |
| COX6B1cytochrome c oxidase subunit 6B1 | Immer | In 1 Erkrankung |
| CTSAcathepsin A | Immer | In 1 Erkrankung |
| CTSDcathepsin D | Immer | In 1 Erkrankung |
| CTSFcathepsin F | Immer | In 1 Erkrankung |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Immer | In 1 Erkrankung |
| FMR1fragile X messenger ribonucleoprotein 1 | Immer | In 1 Erkrankung |
| FUCA1alpha-L-fucosidase 1 | Immer | In 1 Erkrankung |
| KARS1lysyl-tRNA synthetase 1 | Immer | In 1 Erkrankung |
| PLA2G6phospholipase A2 group VI | Immer | In 3 Erkrankungen |
| PLP1proteolipid protein 1 | Immer | In 2 Erkrankungen |
| POLR3KRNA polymerase III subunit K | Immer | In 1 Erkrankung |
| RPS6KC1ribosomal protein S6 kinase C1 | Immer | In 1 Erkrankung |
| STUB1STIP1 homology and U-box containing protein 1 | Immer | In 1 Erkrankung |
| TSPOAP1TSPO associated protein 1 | Immer | In 2 Erkrankungen |
| VPS13Cvacuolar protein sorting 13 homolog C | Immer | In 1 Erkrankung |
| WDR45WD repeat domain 45 | Immer | In 1 Erkrankung |
| XPAXPA, DNA damage recognition and repair factor | Immer | In 1 Erkrankung |
| ABCD1ATP binding cassette subfamily D member 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| ACTBactin beta | Sehr häufig (80–99 %) | In 1 Erkrankung |
| APPamyloid beta precursor protein | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| CHMP2Bcharged multivesicular body protein 2B | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| DCAF17DDB1 and CUL4 associated factor 17 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| FA2Hfatty acid 2-hydroxylase | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| GALCgalactosylceramidase | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| GRNgranulin precursor | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| HEPACAMhepatic and glial cell adhesion molecule | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| HTThuntingtin | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MAPTmicrotubule associated protein tau | Sehr häufig (80–99 %) | In 6 Erkrankungen |
| NBNnibrin | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PSAPprosaposin | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| PSEN1presenilin 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| ROGDIrogdi atypical leucine zipper | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SLC13A5solute carrier family 13 member 5 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| SLC2A3solute carrier family 2 member 3 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SLC44A1solute carrier family 44 member 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
149 weitere Gene anzeigen
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| SPG11SPG11 vesicle trafficking associated, spatacsin | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| SQSTM1sequestosome 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| TMEM106Btransmembrane protein 106B | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| TREM2triggering receptor expressed on myeloid cells 2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| VCPvalosin containing protein | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| ADA2adenosine deaminase 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| AGKacylglycerol kinase | Häufig (30–79 %) | In 1 Erkrankung |
| AQP4aquaporin 4 | Häufig (30–79 %) | In 1 Erkrankung |
| ATXN7ataxin 7 | Häufig (30–79 %) | In 2 Erkrankungen |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Häufig (30–79 %) | In 2 Erkrankungen |
| CHD2chromodomain helicase DNA binding protein 2 | Häufig (30–79 %) | In 1 Erkrankung |
| CNTNAP2contactin associated protein 2 | Häufig (30–79 %) | In 1 Erkrankung |
| CPLX1complexin 1 | Häufig (30–79 %) | In 1 Erkrankung |
| CST3cystatin C | Häufig (30–79 %) | In 1 Erkrankung |
| CSTBcystatin B | Häufig (30–79 %) | In 1 Erkrankung |
| CUX2cut like homeobox 2 | Häufig (30–79 %) | In 1 Erkrankung |
| DNM1dynamin 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| EPG5ectopic P-granules 5 autophagy tethering factor | Häufig (30–79 %) | In 1 Erkrankung |
| EPM2AEPM2A glucan phosphatase, laforin | Häufig (30–79 %) | In 1 Erkrankung |
| FTH1ferritin heavy chain 1 | Häufig (30–79 %) | In 1 Erkrankung |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Häufig (30–79 %) | In 1 Erkrankung |
| GALTgalactose-1-phosphate uridylyltransferase | Häufig (30–79 %) | In 1 Erkrankung |
| GDAP2ganglioside induced differentiation associated protein 2 | Häufig (30–79 %) | In 1 Erkrankung |
| GOSR2golgi SNAP receptor complex member 2 | Häufig (30–79 %) | In 1 Erkrankung |
| GPRC5BG protein-coupled receptor class C group 5 member B | Häufig (30–79 %) | In 1 Erkrankung |
| HEXBhexosaminidase subunit beta | Häufig (30–79 %) | In 1 Erkrankung |
| HMBShydroxymethylbilane synthase | Häufig (30–79 %) | In 1 Erkrankung |
| JAM2junctional adhesion molecule 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| KCNC1potassium voltage-gated channel subfamily C member 1 | Häufig (30–79 %) | In 1 Erkrankung |
| MAPK10mitogen-activated protein kinase 10 | Häufig (30–79 %) | In 1 Erkrankung |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Häufig (30–79 %) | In 1 Erkrankung |
| MLC1modulator of VRAC current 1 | Häufig (30–79 %) | In 1 Erkrankung |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Häufig (30–79 %) | In 1 Erkrankung |
| MTHFRmethylenetetrahydrofolate reductase | Häufig (30–79 %) | In 1 Erkrankung |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| PANK2pantothenate kinase 2 | Häufig (30–79 %) | In 1 Erkrankung |
| PRNPprion protein (Kanno blood group) | Häufig (30–79 %) | In 2 Erkrankungen |
| RRP12ribosomal RNA processing 12 homolog | Häufig (30–79 %) | In 1 Erkrankung |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Häufig (30–79 %) | In 3 Erkrankungen |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Häufig (30–79 %) | In 2 Erkrankungen |
| SLC7A6OSsolute carrier family 7 member 6 opposite strand | Häufig (30–79 %) | In 1 Erkrankung |
| SLC9A6solute carrier family 9 member A6 | Häufig (30–79 %) | In 1 Erkrankung |
| SMPD1sphingomyelin phosphodiesterase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| SNORD118small nucleolar RNA, C/D box 118 | Häufig (30–79 %) | In 2 Erkrankungen |
| SPG21SPG21 abhydrolase domain containing, maspardin | Häufig (30–79 %) | In 1 Erkrankung |
| SYNJ1synaptojanin 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| TBC1D24TBC1 domain family member 24 | Häufig (30–79 %) | In 1 Erkrankung |
| TBPTATA-box binding protein | Häufig (30–79 %) | In 1 Erkrankung |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Häufig (30–79 %) | In 2 Erkrankungen |
| TMEM240transmembrane protein 240 | Häufig (30–79 %) | In 1 Erkrankung |
| AASSaminoadipate-semialdehyde synthase | Manchmal (5–29 %) | In 1 Erkrankung |
| ACTL6Bactin like 6B | Manchmal (5–29 %) | In 1 Erkrankung |
| AMACRalpha-methylacyl-CoA racemase | Manchmal (5–29 %) | In 1 Erkrankung |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| APTXaprataxin | Manchmal (5–29 %) | In 1 Erkrankung |
| ASAH1N-acylsphingosine amidohydrolase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Manchmal (5–29 %) | In 2 Erkrankungen |
| ATP6V1AATPase H+ transporting V1 subunit A | Manchmal (5–29 %) | In 1 Erkrankung |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Manchmal (5–29 %) | In 1 Erkrankung |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| CDK19cyclin dependent kinase 19 | Manchmal (5–29 %) | In 1 Erkrankung |
| CELF2CUGBP Elav-like family member 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| CLTCclathrin heavy chain | Manchmal (5–29 %) | In 1 Erkrankung |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| DALRD3DALR anticodon binding domain containing 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Manchmal (5–29 %) | In 1 Erkrankung |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Manchmal (5–29 %) | In 1 Erkrankung |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNMT1DNA methyltransferase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| FBXO28F-box protein 28 | Manchmal (5–29 %) | In 1 Erkrankung |
| FGF12fibroblast growth factor 12 | Manchmal (5–29 %) | In 1 Erkrankung |
| FOXG1forkhead box G1 | Manchmal (5–29 %) | In 1 Erkrankung |
| FZR1fizzy and cell division cycle 20 related 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Manchmal (5–29 %) | In 1 Erkrankung |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Manchmal (5–29 %) | In 1 Erkrankung |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Manchmal (5–29 %) | In 1 Erkrankung |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Manchmal (5–29 %) | In 1 Erkrankung |
| GBA1glucosylceramidase beta 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GIGYF2GRB10 interacting GYF protein 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Manchmal (5–29 %) | In 1 Erkrankung |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| HTRA1HtrA serine peptidase 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| L1CAML1 cell adhesion molecule | Manchmal (5–29 %) | In 1 Erkrankung |
| LIG3DNA ligase 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| LRRK2leucine rich repeat kinase 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| MAP2K1mitogen-activated protein kinase kinase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| MFN2mitofusin 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| MMACHCmetabolism of cobalamin associated C | Manchmal (5–29 %) | In 1 Erkrankung |
| MYORGmyogenesis regulating glycosidase | Manchmal (5–29 %) | In 2 Erkrankungen |
| NECAP1NECAP endocytosis associated 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| NRASNRAS proto-oncogene, GTPase | Manchmal (5–29 %) | In 2 Erkrankungen |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Manchmal (5–29 %) | In 1 Erkrankung |
| PACS2phosphofurin acidic cluster sorting protein 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Manchmal (5–29 %) | In 1 Erkrankung |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Manchmal (5–29 %) | In 1 Erkrankung |
| PRDM8PR/SET domain 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC1A2solute carrier family 1 member 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC38A3solute carrier family 38 member 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| SNCAsynuclein alpha | Manchmal (5–29 %) | In 2 Erkrankungen |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SZT2SZT2 subunit of KICSTOR complex | Manchmal (5–29 %) | In 1 Erkrankung |
| TRAK1trafficking kinesin protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| TTPAalpha tocopherol transfer protein | Manchmal (5–29 %) | In 1 Erkrankung |
| UBA5ubiquitin like modifier activating enzyme 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| UBAP1ubiquitin associated protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| UFSP2UFM1 specific peptidase 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| VPS13Avacuolar protein sorting 13 homolog A | Manchmal (5–29 %) | In 1 Erkrankung |
| VPS35VPS35 retromer complex component | Manchmal (5–29 %) | In 1 Erkrankung |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Manchmal (5–29 %) | In 1 Erkrankung |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Selten (1–4 %) | In 1 Erkrankung |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Selten (1–4 %) | In 1 Erkrankung |
| TLR3toll like receptor 3 | Selten (1–4 %) | In 1 Erkrankung |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Nicht erfasst | In 1 Erkrankung |
| ARSAarylsulfatase A | Nicht erfasst | In 1 Erkrankung |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Nicht erfasst | In 1 Erkrankung |
| C19orf12chromosome 19 open reading frame 12 | Nicht erfasst | In 1 Erkrankung |
| CLN8CLN8 transmembrane ER and ERGIC protein | Nicht erfasst | In 1 Erkrankung |
| COASYCoenzyme A synthase | Nicht erfasst | In 1 Erkrankung |
| CSF1Rcolony stimulating factor 1 receptor | Nicht erfasst | In 2 Erkrankungen |
| CTC1CST telomere replication complex component 1 | Nicht erfasst | In 1 Erkrankung |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nicht erfasst | In 1 Erkrankung |
| GBA2glucosylceramidase beta 2 | Nicht erfasst | In 1 Erkrankung |
| GNASGNAS complex locus | Nicht erfasst | In 1 Erkrankung |
| MFSD8major facilitator superfamily domain containing 8 | Nicht erfasst | In 1 Erkrankung |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Nicht erfasst | In 1 Erkrankung |
| PDE10Aphosphodiesterase 10A | Nicht erfasst | In 1 Erkrankung |
| PDE11Aphosphodiesterase 11A | Nicht erfasst | In 1 Erkrankung |
| PDGFBplatelet derived growth factor subunit B | Nicht erfasst | In 1 Erkrankung |
| PDGFRBplatelet derived growth factor receptor beta | Nicht erfasst | In 1 Erkrankung |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Nicht erfasst | In 1 Erkrankung |
| PRKCGprotein kinase C gamma | Nicht erfasst | In 1 Erkrankung |
| SGPL1sphingosine-1-phosphate lyase 1 | Nicht erfasst | In 1 Erkrankung |
| SLC20A2solute carrier family 20 member 2 | Nicht erfasst | In 1 Erkrankung |
| TBK1TANK binding kinase 1 | Nicht erfasst | In 1 Erkrankung |
| UBTFupstream binding transcription factor | Nicht erfasst | In 1 Erkrankung |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Nicht erfasst | In 1 Erkrankung |
Wie häufig dieses Merkmal bei Menschen mit einer der Erkrankungen auftritt, die mit dem Gen in Verbindung stehen, und zwar der höchste Wert unter ihnen, so wie ihn die Human Phenotype Ontology erfasst. Diese Seiten beschreiben Merkmale und die dazugehörige Forschung; sie stellen keine Diagnose dar. Fragen zu Symptomen richten Sie bitte an Ihre Ärztin, Ihren Arzt oder eine genetische Beratung.
Untergeordnete Merkmale
Übergeordnete Merkmale
Woher diese Angaben stammen
- Die Human Phenotype Ontology, Version 2026-09-01: das Merkmal, seine Bezeichnungen, seine Definition und die damit verknüpften Gene. Weitere Informationen finden Sie unter hpo.jax.org.
- Datenstand 2026.10.17-8666dff2.
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