Özellik
Parkinsonism
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Özet
- Vücut sistemi
- Abnormality of the nervous system
Bu sayfanın veri olarak görünümü
Veriyi JSON olarak okumak için sayfa adresinin sonuna .json ekleyin veya application/json isteyin.
library(jsonlite)
url <- "https://dantelabs.com/traits/parkinsonism.json"
page <- fromJSON(url)
page$trait$nameParkinsonism ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi al62 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.
- Parkinson DiseaseReads 12 of these genesFBXO7GBA1LRRK2PLA2G6PRKNSNCAAbout this report →
- Inherited Neurodegenerative DisordersReads 56 of these genesCLN3CSF1RDCTN1FMR1PLA2G6POLGAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 15 of these genesDCTN1CHCHD10FUSSQSTM1TARDBPTBK1About this report →
- Basal Ganglia CalcificationReads 7 of these genesJAM2NAA60MYORGPDGFBPDGFRBSLC20A2About this report →
Show 58 more reports
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 8 of these genesPLA2G6ATP13A2COASYC19orf12PANK2WDR45About this report →
- Frontotemporal DementiaReads 9 of these genesPSEN1CHCHD10MAPTSQSTM1TBK1VCPAbout this report →
- Alzheimer diseaseReads 5 of these genesAPPPSEN1PSEN2TREM2APOEAbout this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 6 of these genesSLC18A2GCH1THDNAJC12PCBD1PTSAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 9 of these genesATP1A3PPP2R2BSTUB1TBPAFG3L2ATXN2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 9 of these genesNR4A2SLC18A2SLC6A3WARS2ATP1A3GCH1About this report →
- Hereditary Manganese Transporter DisordersReads 2 of these genesSLC39A14SLC30A10About this report →
- Cerebral Amyloid AngiopathyReads 2 of these genesCST3APPAbout this report →
- Neuroacanthocytosis and Huntington Disease PhenocopiesReads 2 of these genesVPS13AJPH3About this report →
- Neuronal Ceroid LipofuscinosisReads 4 of these genesCLN3ATP13A2GRNDNAJC5About this report →
- Rare Hereditary Peripheral NeuropathiesReads 16 of these genesDCTN1MPV17PLA2G6POLGCHCHD10COQ2About this report →
- Epilepsy (Full Panel)Reads 14 of these genesATP6AP2RNU2-2SYNJ1ATP1A3GABRA1GABRG2About this report →
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)Reads 2 of these genesCSF1RTREM2About this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- Brain Abnormalities, Neurodegeneration and Dysosteosclerosis (BANDDOS)Reads 1 of these genesCSF1RAbout this report →
- Cerebrotendinous XanthomatosisReads 1 of these genesCYP27A1About this report →
- Chediak-Higashi syndromeReads 1 of these genesLYSTAbout this report →
- Christianson SyndromeReads 1 of these genesSLC9A6About this report →
- Dopamine Transporter Deficiency SyndromeReads 1 of these genesSLC6A3About 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 →
- GTP Cyclohydrolase 1 DeficiencyReads 1 of these genesGCH1About this report →
- KIF5A-Related Amyotrophic Lateral SclerosisReads 1 of these genesKIF5AAbout this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- TNR-Related Neurodevelopmental Disorder with SpasticityReads 1 of these genesTNRAbout this report →
- UBTF-Related NeuroregressionReads 1 of these genesUBTFAbout this report →
- Lysosomal Storage DiseaseReads 7 of these genesCLN3GBA1AP5Z1CYP27A1GNEGRNAbout this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Hereditary FibromatosesReads 1 of these genesPDGFRBAbout this report →
- Charcot-Marie-Tooth DiseaseReads 6 of these genesDCTN1MPV17VCPSIGMAR1SORDSPG11About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 3 of these genesSCN9ASPTLC1SPTLC2About this report →
- Hereditary Spastic ParaplegiaReads 5 of these genesATP13A2AP5Z1ERLIN1KIF5ASPG11About this report →
- Hereditary AmyloidosisReads 2 of these genesCST3APPAbout this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Spinal Muscular AtrophyReads 3 of these genesDCTN1CHCHD10SIGMAR1About this report →
- Hereditary Optic NeuropathyReads 2 of these genesATP1A3AFG3L2About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 4 of these genesSTUB1CYP27A1SYNE1TWNKAbout this report →
- Inherited ThrombocytopeniasReads 3 of these genesGNEGP1BBPLAUAbout this report →
- Familial Paget Disease of BoneReads 1 of these genesSQSTM1About this report →
- Hereditary Episodic AtaxiasReads 1 of these genesSCN2AAbout 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 genesVCPGNEAbout this report →
- Intellectual DisabilityReads 7 of these genesATP6AP2RAB39BPCDH19SCN2AHIVEP2JMJD1CAbout this report →
- Other Inherited LeukodystrophiesReads 4 of these genesCSF1RTREM2CYP27A1TMEM106BAbout this report →
- Primary Mitochondrial DiseaseReads 5 of these genesMPV17POLGCOQ2AFG3L2TWNKAbout this report →
- Inherited Platelet Function DisordersReads 1 of these genesGP1BBAbout this report →
- HyperlipidemiaReads 1 of these genesAPOEAbout this report →
- Female InfertilityReads 2 of these genesFMR1TWNKAbout this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesCBSAbout this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesCOASYAbout this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesFTLAbout this report →
- Congenital Disorders of GlycosylationReads 2 of these genesATP6AP2GNEAbout this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesTMEM106BAbout this report →
- Dilated CardiomyopathyReads 1 of these genesSYNE1About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesLYSTTBX1About this report →
Parkinsonism ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi alParkinsonism ile ilişkili 141 gen
Bu genlerdeki değişiklikler, Parkinsonism özelliğinin görüldüğü nadir durumlara yol açar. Bu özelliğe sahip çoğu kişide bu durumlardan hiçbiri yoktur; ayrıca bu listedeki bir gen, kimsenin kendi genomu hakkında bir şey söylemez.
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| ATP6AP2ATPase H+ transporting accessory protein 2 | Her zaman | 2 durumda |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Her zaman | 1 durumda |
| CSF1Rcolony stimulating factor 1 receptor | Her zaman | 1 durumda |
| CST3cystatin C | Her zaman | 1 durumda |
| DCTN1dynactin subunit 1 | Her zaman | 2 durumda |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Her zaman | 1 durumda |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Her zaman | 2 durumda |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Her zaman | 1 durumda |
| FBXO7F-box protein 7 | Her zaman | 2 durumda |
| FMR1fragile X messenger ribonucleoprotein 1 | Her zaman | 2 durumda |
| GBA1glucosylceramidase beta 1 | Her zaman | 4 durumda |
| GIGYF2GRB10 interacting GYF protein 2 | Her zaman | 1 durumda |
| LRRK2leucine rich repeat kinase 2 | Her zaman | 2 durumda |
| MPV17mitochondrial inner membrane protein MPV17 | Her zaman | 1 durumda |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Her zaman | 3 durumda |
| PLA2G6phospholipase A2 group VI | Her zaman | 1 durumda |
| POLGDNA polymerase gamma, catalytic subunit | Her zaman | 2 durumda |
| PRKNparkin RBR E3 ubiquitin protein ligase | Her zaman | 1 durumda |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Her zaman | 1 durumda |
| RAB32RAB32, member RAS oncogene family | Her zaman | 1 durumda |
| RAB39BRAB39B, member RAS oncogene family | Her zaman | 1 durumda |
| RNU2-2RNA, U2 small nuclear 2 | Her zaman | 1 durumda |
| SLC18A2solute carrier family 18 member A2 | Her zaman | 2 durumda |
| SLC9A6solute carrier family 9 member A6 | Her zaman | 1 durumda |
| SNCAsynuclein alpha | Her zaman | 5 durumda |
| SYNJ1synaptojanin 1 | Her zaman | 1 durumda |
| VPS35VPS35 retromer complex component | Her zaman | 2 durumda |
| APPamyloid beta precursor protein | Çok sık (%80–99) | 2 durumda |
| ATP13A2ATPase cation transporting 13A2 | Çok sık (%80–99) | 4 durumda |
| COASYCoenzyme A synthase | Çok sık (%80–99) | 1 durumda |
| PSEN1presenilin 1 | Çok sık (%80–99) | 3 durumda |
| PSEN2presenilin 2 | Çok sık (%80–99) | 1 durumda |
| SLC6A3solute carrier family 6 member 3 | Çok sık (%80–99) | 2 durumda |
| SORL1sortilin related receptor 1 | Çok sık (%80–99) | 1 durumda |
| TOMM40translocase of outer mitochondrial membrane 40 | Çok sık (%80–99) | 1 durumda |
| TREM2triggering receptor expressed on myeloid cells 2 | Çok sık (%80–99) | 2 durumda |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Çok sık (%80–99) | 2 durumda |
| ACBD6acyl-CoA binding domain containing 6 | Sık (%30–79) | 1 durumda |
| AOPEPaminopeptidase O (putative) | Sık (%30–79) | 1 durumda |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sık (%30–79) | 2 durumda |
101 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| C19orf12chromosome 19 open reading frame 12 | Sık (%30–79) | 1 durumda |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sık (%30–79) | 2 durumda |
| COQ2coenzyme Q2, polyprenyltransferase | Sık (%30–79) | 3 durumda |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Sık (%30–79) | 1 durumda |
| FUSFUS RNA binding protein | Sık (%30–79) | 2 durumda |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Sık (%30–79) | 1 durumda |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sık (%30–79) | 1 durumda |
| GCH1GTP cyclohydrolase 1 | Sık (%30–79) | 1 durumda |
| IMPDH2inosine monophosphate dehydrogenase 2 | Sık (%30–79) | 1 durumda |
| JAM2junctional adhesion molecule 2 | Sık (%30–79) | 2 durumda |
| MAPTmicrotubule associated protein tau | Sık (%30–79) | 7 durumda |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Sık (%30–79) | 2 durumda |
| PANK2pantothenate kinase 2 | Sık (%30–79) | 2 durumda |
| PCDH19protocadherin 19 | Sık (%30–79) | 1 durumda |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Sık (%30–79) | 2 durumda |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Sık (%30–79) | 1 durumda |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Sık (%30–79) | 2 durumda |
| PRNPprion protein (Kanno blood group) | Sık (%30–79) | 2 durumda |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sık (%30–79) | 1 durumda |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sık (%30–79) | 1 durumda |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sık (%30–79) | 1 durumda |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Sık (%30–79) | 1 durumda |
| SLC39A14solute carrier family 39 member 14 | Sık (%30–79) | 2 durumda |
| SQSTM1sequestosome 1 | Sık (%30–79) | 1 durumda |
| STUB1STIP1 homology and U-box containing protein 1 | Sık (%30–79) | 1 durumda |
| TARDBPTAR DNA binding protein | Sık (%30–79) | 2 durumda |
| TBK1TANK binding kinase 1 | Sık (%30–79) | 1 durumda |
| TBPTATA-box binding protein | Sık (%30–79) | 3 durumda |
| THtyrosine hydroxylase | Sık (%30–79) | 2 durumda |
| TSPOAP1TSPO associated protein 1 | Sık (%30–79) | 1 durumda |
| VCPvalosin containing protein | Sık (%30–79) | 3 durumda |
| VPS13Avacuolar protein sorting 13 homolog A | Sık (%30–79) | 2 durumda |
| WDR45WD repeat domain 45 | Sık (%30–79) | 2 durumda |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Bazen (%5–29) | 2 durumda |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Bazen (%5–29) | 1 durumda |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Bazen (%5–29) | 2 durumda |
| ARVCFARVCF delta catenin family member | Bazen (%5–29) | 1 durumda |
| ATXN2ataxin 2 | Bazen (%5–29) | 3 durumda |
| ATXN3ataxin 3 | Bazen (%5–29) | 2 durumda |
| CBScystathionine beta-synthase | Bazen (%5–29) | 1 durumda |
| CHMP2Bcharged multivesicular body protein 2B | Bazen (%5–29) | 1 durumda |
| COMTcatechol-O-methyltransferase | Bazen (%5–29) | 1 durumda |
| CPceruloplasmin | Bazen (%5–29) | 1 durumda |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Bazen (%5–29) | 1 durumda |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Bazen (%5–29) | 1 durumda |
| ERLIN1ER lipid raft associated 1 | Bazen (%5–29) | 1 durumda |
| FTLferritin light chain | Bazen (%5–29) | 2 durumda |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Bazen (%5–29) | 1 durumda |
| GP1BBglycoprotein Ib platelet subunit beta | Bazen (%5–29) | 1 durumda |
| GRNgranulin precursor | Bazen (%5–29) | 2 durumda |
| HIRAhistone cell cycle regulator | Bazen (%5–29) | 1 durumda |
| HIVEP2HIVEP zinc finger 2 | Bazen (%5–29) | 1 durumda |
| JMJD1Cjumonji domain containing 1C | Bazen (%5–29) | 1 durumda |
| JPH3junctophilin 3 | Bazen (%5–29) | 1 durumda |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Bazen (%5–29) | 1 durumda |
| KIF5Akinesin family member 5A | Bazen (%5–29) | 2 durumda |
| LYSTlysosomal trafficking regulator | Bazen (%5–29) | 1 durumda |
| MECP2methyl-CpG binding protein 2 | Bazen (%5–29) | 2 durumda |
| MYORGmyogenesis regulating glycosidase | Bazen (%5–29) | 2 durumda |
| NOTCH3notch receptor 3 | Bazen (%5–29) | 1 durumda |
| PDGFBplatelet derived growth factor subunit B | Bazen (%5–29) | 2 durumda |
| PDGFRBplatelet derived growth factor receptor beta | Bazen (%5–29) | 2 durumda |
| RREB1ras responsive element binding protein 1 | Bazen (%5–29) | 1 durumda |
| RRP12ribosomal RNA processing 12 homolog | Bazen (%5–29) | 1 durumda |
| SEC24CSEC24 homolog C, COPII component | Bazen (%5–29) | 1 durumda |
| SIGMAR1sigma receptor chaperone 1 | Bazen (%5–29) | 1 durumda |
| SLC20A2solute carrier family 20 member 2 | Bazen (%5–29) | 1 durumda |
| SORDsorbitol dehydrogenase | Bazen (%5–29) | 1 durumda |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Bazen (%5–29) | 2 durumda |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Bazen (%5–29) | 1 durumda |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Bazen (%5–29) | 1 durumda |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Bazen (%5–29) | 1 durumda |
| TBX1T-box transcription factor 1 | Bazen (%5–29) | 1 durumda |
| TMEM106Btransmembrane protein 106B | Bazen (%5–29) | 1 durumda |
| TRMT2BtRNA methyltransferase 2B | Bazen (%5–29) | 1 durumda |
| UBQLN2ubiquilin 2 | Bazen (%5–29) | 1 durumda |
| UBTFupstream binding transcription factor | Bazen (%5–29) | 1 durumda |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Bazen (%5–29) | 1 durumda |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Bazen (%5–29) | 2 durumda |
| ATN1atrophin 1 | Seyrek (%1–4) | 1 durumda |
| CATcatalase | Seyrek (%1–4) | 1 durumda |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Seyrek (%1–4) | 1 durumda |
| SCARB2scavenger receptor class B member 2 | Seyrek (%1–4) | 1 durumda |
| TWNKtwinkle mtDNA helicase | Seyrek (%1–4) | 1 durumda |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Kaydedilmedi | 1 durumda |
| APOEapolipoprotein E | Kaydedilmedi | 1 durumda |
| ATXN8OSATXN8 opposite strand lncRNA | Kaydedilmedi | 1 durumda |
| C9orf72C9orf72-SMCR8 complex subunit | Kaydedilmedi | 1 durumda |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Kaydedilmedi | 1 durumda |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Kaydedilmedi | 1 durumda |
| MPOmyeloperoxidase | Kaydedilmedi | 1 durumda |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Kaydedilmedi | 1 durumda |
| PDE10Aphosphodiesterase 10A | Kaydedilmedi | 1 durumda |
| PINK1PTEN induced kinase 1 | Kaydedilmedi | 1 durumda |
| PLAUplasminogen activator, urokinase | Kaydedilmedi | 1 durumda |
| PTS6-pyruvoyltetrahydropterin synthase | Kaydedilmedi | 1 durumda |
| SLC30A10solute carrier family 30 member 10 | Kaydedilmedi | 1 durumda |
| SNCAIPsynuclein alpha interacting protein | Kaydedilmedi | 1 durumda |
| SNCBsynuclein beta | Kaydedilmedi | 1 durumda |
| TMEM240transmembrane protein 240 | Kaydedilmedi | 1 durumda |
| TNRtenascin R | Kaydedilmedi | 1 durumda |
Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.
Daha dar özellikler
Daha geniş özellikler
Bilgilerin kaynağı
- Human Phenotype Ontology, 2026-09-01 sürümü: özellik, adları, tanımı ve buna bağlı genler. Ayrıntılar için hpo.jax.org adresine bakın.
- Veri sürümü 2026.10.19-9814e911.
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Ücretsiz kargo · Sonuçlar 6–8 hafta içinde
