Tunnus
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.
Kokkuvõte
- Teised nimetused
- Dementia, progressive, Progressive dementia
- Kehasüsteem
- Abnormality of the nervous system
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/dementia.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Dementia-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test195 geeni on seotud tunnusega Dementia
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Dementia. 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 |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| ABCB7ATP binding cassette subfamily B member 7 | Alati | Esineb 1 haiguses |
| ATP13A2ATPase cation transporting 13A2 | Alati | Esineb 4 haiguses |
| CERS1ceramide synthase 1 | Alati | Esineb 1 haiguses |
| CTSFcathepsin F | Alati | Esineb 1 haiguses |
| CYLDCYLD lysine 63 deubiquitinase | Alati | Esineb 1 haiguses |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Alati | Esineb 1 haiguses |
| GBA2glucosylceramidase beta 2 | Alati | Esineb 2 haiguses |
| GPRC5BG protein-coupled receptor class C group 5 member B | Alati | Esineb 1 haiguses |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Alati | Esineb 1 haiguses |
| PRNPprion protein (Kanno blood group) | Alati | Esineb 9 haiguses |
| SPG21SPG21 abhydrolase domain containing, maspardin | Alati | Esineb 2 haiguses |
| TBPTATA-box binding protein | Alati | Esineb 2 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Alati | Esineb 5 haiguses |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Alati | Esineb 1 haiguses |
| VPS13Cvacuolar protein sorting 13 homolog C | Alati | Esineb 2 haiguses |
| WDR45WD repeat domain 45 | Alati | Esineb 2 haiguses |
| APPamyloid beta precursor protein | Väga sageli (80–99%) | Esineb 7 haiguses |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HTRA1HtrA serine peptidase 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Väga sageli (80–99%) | Esineb 2 haiguses |
| PSEN1presenilin 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| PSEN2presenilin 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ROGDIrogdi atypical leucine zipper | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 155 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| SLC13A5solute carrier family 13 member 5 | Väga sageli (80–99%) | Esineb 1 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 |
| WFS1wolframin ER transmembrane glycoprotein | Väga sageli (80–99%) | Esineb 2 haiguses |
| ADA2adenosine deaminase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| APOEapolipoprotein E | Sageli (30–79%) | Esineb 3 haiguses |
| ARSAarylsulfatase A | Sageli (30–79%) | Esineb 1 haiguses |
| ATN1atrophin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ATXN2ataxin 2 | Sageli (30–79%) | Esineb 3 haiguses |
| CBLIFcobalamin binding intrinsic factor | Sageli (30–79%) | Esineb 1 haiguses |
| CHMP2Bcharged multivesicular body protein 2B | Sageli (30–79%) | Esineb 1 haiguses |
| CLN6CLN6 transmembrane ER protein | Sageli (30–79%) | Esineb 1 haiguses |
| CMPK2cytidine/uridine monophosphate kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CSTBcystatin B | Sageli (30–79%) | Esineb 2 haiguses |
| DNMT1DNA methyltransferase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Sageli (30–79%) | Esineb 1 haiguses |
| EPM2AEPM2A glucan phosphatase, laforin | Sageli (30–79%) | Esineb 2 haiguses |
| GBA1glucosylceramidase beta 1 | Sageli (30–79%) | Esineb 5 haiguses |
| GRNgranulin precursor | Sageli (30–79%) | Esineb 1 haiguses |
| HTThuntingtin | Sageli (30–79%) | Esineb 2 haiguses |
| JAM2junctional adhesion molecule 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MAPTmicrotubule associated protein tau | Sageli (30–79%) | Esineb 5 haiguses |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 2 haiguses |
| MYORGmyogenesis regulating glycosidase | Sageli (30–79%) | Esineb 1 haiguses |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Sageli (30–79%) | Esineb 1 haiguses |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NOTCH2NLCnotch 2 N-terminal like C | Sageli (30–79%) | Esineb 2 haiguses |
| NOTCH3notch receptor 3 | Sageli (30–79%) | Esineb 2 haiguses |
| PANK2pantothenate kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PDGFBplatelet derived growth factor subunit B | Sageli (30–79%) | Esineb 2 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Sageli (30–79%) | Esineb 2 haiguses |
| PSAPprosaposin | Sageli (30–79%) | Esineb 1 haiguses |
| RNF216ring finger protein 216 | Sageli (30–79%) | Esineb 2 haiguses |
| RRP12ribosomal RNA processing 12 homolog | Sageli (30–79%) | Esineb 1 haiguses |
| SLC20A2solute carrier family 20 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM106Btransmembrane protein 106B | Sageli (30–79%) | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Sageli (30–79%) | Esineb 1 haiguses |
| VCPvalosin containing protein | Sageli (30–79%) | Esineb 2 haiguses |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CISD2CDGSH iron sulfur domain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLN8CLN8 transmembrane ER and ERGIC protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL4A1collagen type IV alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| DCTN1dynactin subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DGUOKdeoxyguanosine kinase | Mõnikord (5–29%) | Esineb 2 haiguses |
| DLATdihydrolipoamide S-acetyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO7F-box protein 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALCgalactosylceramidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GBE11,4-alpha-glucan branching enzyme 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GCDHglutaryl-CoA dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HTRA2HtrA serine peptidase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JPH3junctophilin 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KCTD7potassium channel tetramerization domain containing 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRRK2leucine rich repeat kinase 2 | Mõnikord (5–29%) | Esineb 3 haiguses |
| LYSTlysosomal trafficking regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| MATR3matrin 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PARK7Parkinsonism associated deglycase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PINK1PTEN induced kinase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PODXLpodocalyxin like | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Mõnikord (5–29%) | Esineb 3 haiguses |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Mõnikord (5–29%) | Esineb 2 haiguses |
| PRICKLE1prickle planar cell polarity protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKNparkin RBR E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAB39BRAB39B, member RAS oncogene family | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Mõnikord (5–29%) | Esineb 2 haiguses |
| SCARB2scavenger receptor class B member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMPD1sphingomyelin phosphodiesterase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNCAsynuclein alpha | Mõnikord (5–29%) | Esineb 6 haiguses |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNJ1synaptojanin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBA4Atubulin alpha 4a | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBB4Atubulin beta 4A class IVa | Mõnikord (5–29%) | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Mõnikord (5–29%) | Esineb 2 haiguses |
| UCHL1ubiquitin C-terminal hydrolase L1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS13Avacuolar protein sorting 13 homolog A | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFYVE26zinc finger FYVE-type containing 26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Harva (1–4%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Harva (1–4%) | Esineb 1 haiguses |
| CDH23cadherin related 23 | Harva (1–4%) | Esineb 1 haiguses |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Harva (1–4%) | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Harva (1–4%) | Esineb 1 haiguses |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Harva (1–4%) | Esineb 1 haiguses |
| GIGYF2GRB10 interacting GYF protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| LIG3DNA ligase 3 | Harva (1–4%) | Esineb 1 haiguses |
| LMNB1lamin B1 | Harva (1–4%) | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Harva (1–4%) | Esineb 2 haiguses |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Harva (1–4%) | Esineb 1 haiguses |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Harva (1–4%) | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Harva (1–4%) | Esineb 1 haiguses |
| PPIBpeptidylprolyl isomerase B | Harva (1–4%) | Esineb 1 haiguses |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Harva (1–4%) | Esineb 1 haiguses |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Harva (1–4%) | Esineb 1 haiguses |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Harva (1–4%) | Esineb 1 haiguses |
| SDHDsuccinate dehydrogenase complex subunit D | Harva (1–4%) | Esineb 1 haiguses |
| STARD7StAR related lipid transfer domain containing 7 | Harva (1–4%) | Esineb 1 haiguses |
| TP53tumor protein p53 | Harva (1–4%) | Esineb 1 haiguses |
| TYMPthymidine phosphorylase | Harva (1–4%) | Esineb 1 haiguses |
| USP48ubiquitin specific peptidase 48 | Harva (1–4%) | Esineb 1 haiguses |
| USP8ubiquitin specific peptidase 8 | Harva (1–4%) | Esineb 1 haiguses |
| VPS35VPS35 retromer complex component | Harva (1–4%) | Esineb 1 haiguses |
| ABCD1ATP binding cassette subfamily D member 1 | Pole registreeritud | Esineb 1 haiguses |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Pole registreeritud | Esineb 1 haiguses |
| APTXaprataxin | Pole registreeritud | Esineb 1 haiguses |
| ASAH1N-acylsphingosine amidohydrolase 1 | Pole registreeritud | Esineb 1 haiguses |
| ATP7BATPase copper transporting beta | Pole registreeritud | Esineb 1 haiguses |
| ATXN10ataxin 10 | Pole registreeritud | Esineb 1 haiguses |
| ATXN3ataxin 3 | Pole registreeritud | Esineb 2 haiguses |
| ATXN8OSATXN8 opposite strand lncRNA | Pole registreeritud | Esineb 1 haiguses |
| C19orf12chromosome 19 open reading frame 12 | Pole registreeritud | Esineb 1 haiguses |
| C9orf72C9orf72-SMCR8 complex subunit | Pole registreeritud | Esineb 1 haiguses |
| CFAP43cilia and flagella associated protein 43 | Pole registreeritud | Esineb 1 haiguses |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Pole registreeritud | Esineb 1 haiguses |
| CPceruloplasmin | Pole registreeritud | Esineb 1 haiguses |
| CPT1Ccarnitine palmitoyltransferase 1C | Pole registreeritud | Esineb 1 haiguses |
| CST3cystatin C | Pole registreeritud | Esineb 1 haiguses |
| CUBNcubilin | Pole registreeritud | Esineb 1 haiguses |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Pole registreeritud | Esineb 1 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Pole registreeritud | Esineb 1 haiguses |
| FTLferritin light chain | Pole registreeritud | Esineb 1 haiguses |
| GM2Aganglioside GM2 activator | Pole registreeritud | Esineb 1 haiguses |
| HEXAhexosaminidase subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Pole registreeritud | Esineb 1 haiguses |
| IRF6interferon regulatory factor 6 | Pole registreeritud | Esineb 1 haiguses |
| ITM2Bintegral membrane protein 2B | Pole registreeritud | Esineb 2 haiguses |
| MMEmembrane metalloendopeptidase | Pole registreeritud | Esineb 1 haiguses |
| MPOmyeloperoxidase | Pole registreeritud | Esineb 1 haiguses |
| MT-CYBmitochondrially encoded cytochrome b | Pole registreeritud | Esineb 1 haiguses |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Pole registreeritud | Esineb 1 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Pole registreeritud | Esineb 1 haiguses |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Pole registreeritud | Esineb 1 haiguses |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Pole registreeritud | Esineb 1 haiguses |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Pole registreeritud | Esineb 1 haiguses |
| NDPnorrin cystine knot growth factor NDP | Pole registreeritud | Esineb 1 haiguses |
| NPC1NPC intracellular cholesterol transporter 1 | Pole registreeritud | Esineb 1 haiguses |
| NPC2NPC intracellular cholesterol transporter 2 | Pole registreeritud | Esineb 1 haiguses |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Pole registreeritud | Esineb 1 haiguses |
| PDE10Aphosphodiesterase 10A | Pole registreeritud | Esineb 1 haiguses |
| PLAUplasminogen activator, urokinase | Pole registreeritud | Esineb 1 haiguses |
| PRDM8PR/SET domain 8 | Pole registreeritud | Esineb 1 haiguses |
| PRDX1peroxiredoxin 1 | Pole registreeritud | Esineb 1 haiguses |
| SERPINI1serpin family I member 1 | Pole registreeritud | Esineb 1 haiguses |
| SNCAIPsynuclein alpha interacting protein | Pole registreeritud | Esineb 1 haiguses |
| SNCBsynuclein beta | Pole registreeritud | Esineb 1 haiguses |
| SPASTspastin | Pole registreeritud | Esineb 1 haiguses |
| TTRtransthyretin | 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
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.17-8666dff2.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast