Tunnus
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.
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Parkinsonism, and the rest of your genome, with one test.
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Telli oma Genome Test141 geeni on seotud tunnusega Parkinsonism
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Parkinsonism. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ATP6AP2ATPase H+ transporting accessory protein 2 | Alati | Esineb 2 haiguses |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Alati | Esineb 1 haiguses |
| CSF1Rcolony stimulating factor 1 receptor | Alati | Esineb 1 haiguses |
| CST3cystatin C | Alati | Esineb 1 haiguses |
| DCTN1dynactin subunit 1 | Alati | Esineb 2 haiguses |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Alati | Esineb 1 haiguses |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Alati | Esineb 2 haiguses |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Alati | Esineb 1 haiguses |
| FBXO7F-box protein 7 | Alati | Esineb 2 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Alati | Esineb 2 haiguses |
| GBA1glucosylceramidase beta 1 | Alati | Esineb 4 haiguses |
| GIGYF2GRB10 interacting GYF protein 2 | Alati | Esineb 1 haiguses |
| LRRK2leucine rich repeat kinase 2 | Alati | Esineb 2 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Alati | Esineb 1 haiguses |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Alati | Esineb 3 haiguses |
| PLA2G6phospholipase A2 group VI | Alati | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Alati | Esineb 2 haiguses |
| PRKNparkin RBR E3 ubiquitin protein ligase | Alati | Esineb 1 haiguses |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Alati | Esineb 1 haiguses |
| RAB32RAB32, member RAS oncogene family | Alati | Esineb 1 haiguses |
| RAB39BRAB39B, member RAS oncogene family | Alati | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Alati | Esineb 1 haiguses |
| SLC18A2solute carrier family 18 member A2 | Alati | Esineb 2 haiguses |
| SLC9A6solute carrier family 9 member A6 | Alati | Esineb 1 haiguses |
| SNCAsynuclein alpha | Alati | Esineb 5 haiguses |
| SYNJ1synaptojanin 1 | Alati | Esineb 1 haiguses |
| VPS35VPS35 retromer complex component | Alati | Esineb 2 haiguses |
| APPamyloid beta precursor protein | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATP13A2ATPase cation transporting 13A2 | Väga sageli (80–99%) | Esineb 4 haiguses |
| COASYCoenzyme A synthase | Väga sageli (80–99%) | Esineb 1 haiguses |
| PSEN1presenilin 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PSEN2presenilin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC6A3solute carrier family 6 member 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SORL1sortilin related receptor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TOMM40translocase of outer mitochondrial membrane 40 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Väga sageli (80–99%) | Esineb 2 haiguses |
| ACBD6acyl-CoA binding domain containing 6 | Sageli (30–79%) | Esineb 1 haiguses |
| AOPEPaminopeptidase O (putative) | Sageli (30–79%) | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 101 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| C19orf12chromosome 19 open reading frame 12 | Sageli (30–79%) | Esineb 1 haiguses |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sageli (30–79%) | Esineb 2 haiguses |
| COQ2coenzyme Q2, polyprenyltransferase | Sageli (30–79%) | Esineb 3 haiguses |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FUSFUS RNA binding protein | Sageli (30–79%) | Esineb 2 haiguses |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Sageli (30–79%) | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sageli (30–79%) | Esineb 1 haiguses |
| GCH1GTP cyclohydrolase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IMPDH2inosine monophosphate dehydrogenase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| JAM2junctional adhesion molecule 2 | Sageli (30–79%) | Esineb 2 haiguses |
| MAPTmicrotubule associated protein tau | Sageli (30–79%) | Esineb 7 haiguses |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Sageli (30–79%) | Esineb 2 haiguses |
| PANK2pantothenate kinase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| PCDH19protocadherin 19 | Sageli (30–79%) | Esineb 1 haiguses |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Sageli (30–79%) | Esineb 2 haiguses |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Sageli (30–79%) | Esineb 2 haiguses |
| PRNPprion protein (Kanno blood group) | Sageli (30–79%) | Esineb 2 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC39A14solute carrier family 39 member 14 | Sageli (30–79%) | Esineb 2 haiguses |
| SQSTM1sequestosome 1 | Sageli (30–79%) | Esineb 1 haiguses |
| STUB1STIP1 homology and U-box containing protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TARDBPTAR DNA binding protein | Sageli (30–79%) | Esineb 2 haiguses |
| TBK1TANK binding kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBPTATA-box binding protein | Sageli (30–79%) | Esineb 3 haiguses |
| THtyrosine hydroxylase | Sageli (30–79%) | Esineb 2 haiguses |
| TSPOAP1TSPO associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| VCPvalosin containing protein | Sageli (30–79%) | Esineb 3 haiguses |
| VPS13Avacuolar protein sorting 13 homolog A | Sageli (30–79%) | Esineb 2 haiguses |
| WDR45WD repeat domain 45 | Sageli (30–79%) | Esineb 2 haiguses |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ARVCFARVCF delta catenin family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN2ataxin 2 | Mõnikord (5–29%) | Esineb 3 haiguses |
| ATXN3ataxin 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CBScystathionine beta-synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHMP2Bcharged multivesicular body protein 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CPceruloplasmin | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERLIN1ER lipid raft associated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FTLferritin light chain | Mõnikord (5–29%) | Esineb 2 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRNgranulin precursor | Mõnikord (5–29%) | Esineb 2 haiguses |
| HIRAhistone cell cycle regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| JPH3junctophilin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF5Akinesin family member 5A | Mõnikord (5–29%) | Esineb 2 haiguses |
| LYSTlysosomal trafficking regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MYORGmyogenesis regulating glycosidase | Mõnikord (5–29%) | Esineb 2 haiguses |
| NOTCH3notch receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDGFBplatelet derived growth factor subunit B | Mõnikord (5–29%) | Esineb 2 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Mõnikord (5–29%) | Esineb 2 haiguses |
| RREB1ras responsive element binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRP12ribosomal RNA processing 12 homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIGMAR1sigma receptor chaperone 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC20A2solute carrier family 20 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SORDsorbitol dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Mõnikord (5–29%) | Esineb 2 haiguses |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM106Btransmembrane protein 106B | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMT2BtRNA methyltransferase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBQLN2ubiquilin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBTFupstream binding transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATN1atrophin 1 | Harva (1–4%) | Esineb 1 haiguses |
| CATcatalase | Harva (1–4%) | Esineb 1 haiguses |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Harva (1–4%) | Esineb 1 haiguses |
| SCARB2scavenger receptor class B member 2 | Harva (1–4%) | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Harva (1–4%) | Esineb 1 haiguses |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Pole registreeritud | Esineb 1 haiguses |
| APOEapolipoprotein E | Pole registreeritud | Esineb 1 haiguses |
| ATXN8OSATXN8 opposite strand lncRNA | Pole registreeritud | Esineb 1 haiguses |
| C9orf72C9orf72-SMCR8 complex subunit | Pole registreeritud | Esineb 1 haiguses |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Pole registreeritud | Esineb 1 haiguses |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Pole registreeritud | Esineb 1 haiguses |
| MPOmyeloperoxidase | Pole registreeritud | Esineb 1 haiguses |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Pole registreeritud | Esineb 1 haiguses |
| PDE10Aphosphodiesterase 10A | Pole registreeritud | Esineb 1 haiguses |
| PINK1PTEN induced kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| PLAUplasminogen activator, urokinase | Pole registreeritud | Esineb 1 haiguses |
| PTS6-pyruvoyltetrahydropterin synthase | Pole registreeritud | Esineb 1 haiguses |
| SLC30A10solute carrier family 30 member 10 | Pole registreeritud | Esineb 1 haiguses |
| SNCAIPsynuclein alpha interacting protein | Pole registreeritud | Esineb 1 haiguses |
| SNCBsynuclein beta | Pole registreeritud | Esineb 1 haiguses |
| TMEM240transmembrane protein 240 | Pole registreeritud | Esineb 1 haiguses |
| TNRtenascin R | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
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Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast