AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Cognitive impairment
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
Santrauka
- Taip pat vadinama
- Abnormality of cognition, Cognitive abnormality, Cognitive defects, Cognitive deficits, Intellectual impairment
- Kūno sistema
- Abnormality of the nervous system
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/cognitive-impairment.json"
page <- fromJSON(url)
page$trait$nameCognitive impairmentHP:0100543
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Cognitive impairment, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test407 genų susiję su Cognitive impairment
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Cognitive impairment. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Visada | 2 ligose |
| COA3cytochrome c oxidase assembly factor 3 | Visada | 1 ligoje |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Visada | 1 ligoje |
| GBE11,4-alpha-glucan branching enzyme 1 | Visada | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Visada | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Visada | 2 ligose |
| NIT1nitrilase 1 | Visada | 1 ligoje |
| NOTCH3notch receptor 3 | Visada | 2 ligose |
| NSD1nuclear receptor binding SET domain protein 1 | Visada | 1 ligoje |
| PLAAphospholipase A2 activating protein | Visada | 1 ligoje |
| SQSTM1sequestosome 1 | Visada | 2 ligose |
| ATP13A2ATPase cation transporting 13A2 | Labai dažnai (80–99%) | 3 ligose |
| ATRATR checkpoint kinase | Labai dažnai (80–99%) | 1 ligoje |
| ATRIPATR interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| BRPF1bromodomain and PHD finger containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Labai dažnai (80–99%) | 1 ligoje |
| CENPEcentromere protein E | Labai dažnai (80–99%) | 1 ligoje |
| CEP152centrosomal protein 152 | Labai dažnai (80–99%) | 1 ligoje |
| CEP295centrosomal protein 295 | Labai dažnai (80–99%) | 1 ligoje |
| CEP63centrosomal protein 63 | Labai dažnai (80–99%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Labai dažnai (80–99%) | 2 ligose |
| COASYCoenzyme A synthase | Labai dažnai (80–99%) | 1 ligoje |
| CPAPcentrosome assembly and centriole elongation protein | Labai dažnai (80–99%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Labai dažnai (80–99%) | 1 ligoje |
| DCXdoublecortin | Labai dažnai (80–99%) | 1 ligoje |
| DDB2damage specific DNA binding protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| DMDdystrophin | Labai dažnai (80–99%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC5ERCC excision repair 5, endonuclease | Labai dažnai (80–99%) | 1 ligoje |
| FASFas cell surface death receptor | Labai dažnai (80–99%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Labai dažnai (80–99%) | 1 ligoje |
| FKRPfukutin related protein | Labai dažnai (80–99%) | 1 ligoje |
| FKTNfukutin | Labai dažnai (80–99%) | 1 ligoje |
| FTLferritin light chain | Labai dažnai (80–99%) | 1 ligoje |
| GATMglycine amidinotransferase | Labai dažnai (80–99%) | 1 ligoje |
| GM2Aganglioside GM2 activator | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 367 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| GMPPBGDP-mannose pyrophosphorylase B | Labai dažnai (80–99%) | 2 ligose |
| GON7GON7 subunit of KEOPS complex | Labai dažnai (80–99%) | 1 ligoje |
| HLA-Bmajor histocompatibility complex, class I, B | Labai dažnai (80–99%) | 1 ligoje |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Labai dažnai (80–99%) | 2 ligose |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Labai dažnai (80–99%) | 1 ligoje |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Labai dažnai (80–99%) | 2 ligose |
| LAGE3L antigen family member 3 | Labai dažnai (80–99%) | 1 ligoje |
| LAMA1laminin subunit alpha 1 | Labai dažnai (80–99%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| LTBP4latent transforming growth factor beta binding protein 4 | Labai dažnai (80–99%) | 1 ligoje |
| MAOAmonoamine oxidase A | Labai dažnai (80–99%) | 1 ligoje |
| NINninein | Labai dažnai (80–99%) | 1 ligoje |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Labai dažnai (80–99%) | 1 ligoje |
| NUP107nucleoporin 107 | Labai dažnai (80–99%) | 1 ligoje |
| NUP133nucleoporin 133 | Labai dažnai (80–99%) | 1 ligoje |
| NUP85nucleoporin 85 | Labai dažnai (80–99%) | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Labai dažnai (80–99%) | 1 ligoje |
| PCNTpericentrin | Labai dažnai (80–99%) | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Labai dažnai (80–99%) | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Labai dažnai (80–99%) | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Labai dažnai (80–99%) | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Labai dažnai (80–99%) | 1 ligoje |
| PEX14peroxisomal biogenesis factor 14 | Labai dažnai (80–99%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Labai dažnai (80–99%) | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Labai dažnai (80–99%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| PEX26peroxisomal biogenesis factor 26 | Labai dažnai (80–99%) | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Labai dažnai (80–99%) | 1 ligoje |
| PLCB1phospholipase C beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| PLK4polo like kinase 4 | Labai dažnai (80–99%) | 1 ligoje |
| PLP1proteolipid protein 1 | Labai dažnai (80–99%) | 2 ligose |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Labai dažnai (80–99%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Labai dažnai (80–99%) | 2 ligose |
| PRNPprion protein (Kanno blood group) | Labai dažnai (80–99%) | 4 ligose |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Labai dažnai (80–99%) | 1 ligoje |
| RBBP8RB binding protein 8, endonuclease | Labai dažnai (80–99%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Labai dažnai (80–99%) | 3 ligose |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Labai dažnai (80–99%) | 3 ligose |
| SETD5SET domain containing 5 | Labai dažnai (80–99%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| SLC12A5solute carrier family 12 member 5 | Labai dažnai (80–99%) | 1 ligoje |
| SLC18A2solute carrier family 18 member A2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC25A15solute carrier family 25 member 15 | Labai dažnai (80–99%) | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Labai dažnai (80–99%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Labai dažnai (80–99%) | 1 ligoje |
| TP53RKTP53 regulating kinase | Labai dažnai (80–99%) | 1 ligoje |
| TPRKBTP53RK binding protein | Labai dažnai (80–99%) | 1 ligoje |
| TRAIPTRAF interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| TRANK1tetratricopeptide repeat and ankyrin repeat containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| TUBB2Btubulin beta 2B class IIb | Labai dažnai (80–99%) | 1 ligoje |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| WDR73WD repeat domain 73 | Labai dažnai (80–99%) | 1 ligoje |
| XPAXPA, DNA damage recognition and repair factor | Labai dažnai (80–99%) | 1 ligoje |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Labai dažnai (80–99%) | 1 ligoje |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Labai dažnai (80–99%) | 1 ligoje |
| ADA2adenosine deaminase 2 | Dažnai (30–79%) | 1 ligoje |
| ADAMTSL4ADAMTS like 4 | Dažnai (30–79%) | 1 ligoje |
| ANGangiogenin | Dažnai (30–79%) | 1 ligoje |
| ANXA11annexin A11 | Dažnai (30–79%) | 2 ligose |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Dažnai (30–79%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Dažnai (30–79%) | 1 ligoje |
| ATN1atrophin 1 | Dažnai (30–79%) | 1 ligoje |
| ATXN1ataxin 1 | Dažnai (30–79%) | 2 ligose |
| ATXN2ataxin 2 | Dažnai (30–79%) | 1 ligoje |
| BBIP1BBSome interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Dažnai (30–79%) | 1 ligoje |
| BBS10Bardet-Biedl syndrome 10 | Dažnai (30–79%) | 1 ligoje |
| BBS12Bardet-Biedl syndrome 12 | Dažnai (30–79%) | 2 ligose |
| BBS2Bardet-Biedl syndrome 2 | Dažnai (30–79%) | 1 ligoje |
| BBS4Bardet-Biedl syndrome 4 | Dažnai (30–79%) | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Dažnai (30–79%) | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Dažnai (30–79%) | 1 ligoje |
| BBS9Bardet-Biedl syndrome 9 | Dažnai (30–79%) | 1 ligoje |
| CACHD1cache domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| CCNFcyclin F | Dažnai (30–79%) | 1 ligoje |
| CEP19centrosomal protein 19 | Dažnai (30–79%) | 1 ligoje |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Dažnai (30–79%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Dažnai (30–79%) | 1 ligoje |
| CHMP2Bcharged multivesicular body protein 2B | Dažnai (30–79%) | 1 ligoje |
| CLCF1cardiotrophin like cytokine factor 1 | Dažnai (30–79%) | 1 ligoje |
| CLMPCXADR like cell adhesion molecule | Dažnai (30–79%) | 1 ligoje |
| CLN8CLN8 transmembrane ER and ERGIC protein | Dažnai (30–79%) | 1 ligoje |
| CMPK2cytidine/uridine monophosphate kinase 2 | Dažnai (30–79%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| CPceruloplasmin | Dažnai (30–79%) | 1 ligoje |
| CRLF1cytokine receptor like factor 1 | Dažnai (30–79%) | 1 ligoje |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Dažnai (30–79%) | 1 ligoje |
| DAOD-amino acid oxidase | Dažnai (30–79%) | 1 ligoje |
| DCCDCC netrin 1 receptor | Dažnai (30–79%) | 1 ligoje |
| DCTN1dynactin subunit 1 | Dažnai (30–79%) | 1 ligoje |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| FA2Hfatty acid 2-hydroxylase | Dažnai (30–79%) | 1 ligoje |
| FBN1fibrillin 1 | Dažnai (30–79%) | 1 ligoje |
| FBXO7F-box protein 7 | Dažnai (30–79%) | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| FLNAfilamin A | Dažnai (30–79%) | 1 ligoje |
| FUSFUS RNA binding protein | Dažnai (30–79%) | 2 ligose |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Dažnai (30–79%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Dažnai (30–79%) | 2 ligose |
| GBA2glucosylceramidase beta 2 | Dažnai (30–79%) | 1 ligoje |
| GDF5growth differentiation factor 5 | Dažnai (30–79%) | 1 ligoje |
| GJB2gap junction protein beta 2 | Dažnai (30–79%) | 1 ligoje |
| GJC2gap junction protein gamma 2 | Dažnai (30–79%) | 2 ligose |
| GLAgalactosidase alpha | Dažnai (30–79%) | 1 ligoje |
| GLE1GLE1 RNA export mediator | Dažnai (30–79%) | 1 ligoje |
| GLT8D1glycosyltransferase 8 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Dažnai (30–79%) | 2 ligose |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Dažnai (30–79%) | 1 ligoje |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Dažnai (30–79%) | 1 ligoje |
| HEXBhexosaminidase subunit beta | Dažnai (30–79%) | 1 ligoje |
| HMBShydroxymethylbilane synthase | Dažnai (30–79%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Dažnai (30–79%) | 1 ligoje |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Dažnai (30–79%) | 1 ligoje |
| HTRA1HtrA serine peptidase 1 | Dažnai (30–79%) | 2 ligose |
| IFT172intraflagellar transport 172 | Dažnai (30–79%) | 1 ligoje |
| IFT27intraflagellar transport 27 | Dažnai (30–79%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Dažnai (30–79%) | 1 ligoje |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Dažnai (30–79%) | 1 ligoje |
| L1CAML1 cell adhesion molecule | Dažnai (30–79%) | 1 ligoje |
| LRP12LDL receptor related protein 12 | Dažnai (30–79%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Dažnai (30–79%) | 1 ligoje |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| MATR3matrin 3 | Dažnai (30–79%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Dažnai (30–79%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Dažnai (30–79%) | 1 ligoje |
| MT-RNR1mitochondrially encoded 12S rRNA | Dažnai (30–79%) | 1 ligoje |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Dažnai (30–79%) | 1 ligoje |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Dažnai (30–79%) | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Dažnai (30–79%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Dažnai (30–79%) | 2 ligose |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Dažnai (30–79%) | 1 ligoje |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Dažnai (30–79%) | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Dažnai (30–79%) | 1 ligoje |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Dažnai (30–79%) | 1 ligoje |
| MTRFRmitochondrial translation release factor in rescue | Dažnai (30–79%) | 3 ligose |
| NEFHneurofilament heavy chain | Dažnai (30–79%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Dažnai (30–79%) | 1 ligoje |
| NOTCH2NLCnotch 2 N-terminal like C | Dažnai (30–79%) | 1 ligoje |
| NPHP1nephrocystin 1 | Dažnai (30–79%) | 1 ligoje |
| OPTNoptineurin | Dažnai (30–79%) | 1 ligoje |
| PANK2pantothenate kinase 2 | Dažnai (30–79%) | 2 ligose |
| PCDH19protocadherin 19 | Dažnai (30–79%) | 1 ligoje |
| PFN1profilin 1 | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 1 ligoje |
| PMPCApeptidase, mitochondrial processing subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Dažnai (30–79%) | 2 ligose |
| POLGDNA polymerase gamma, catalytic subunit | Dažnai (30–79%) | 5 ligose |
| PORCNporcupine O-acyltransferase | Dažnai (30–79%) | 1 ligoje |
| PRPHperipherin | Dažnai (30–79%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Dažnai (30–79%) | 1 ligoje |
| RAB32RAB32, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 1 ligoje |
| RIN2Ras and Rab interactor 2 | Dažnai (30–79%) | 1 ligoje |
| ROBO3roundabout guidance receptor 3 | Dažnai (30–79%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Dažnai (30–79%) | 1 ligoje |
| SCLT1sodium channel and clathrin linker 1 | Dažnai (30–79%) | 1 ligoje |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Dažnai (30–79%) | 2 ligose |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Dažnai (30–79%) | 2 ligose |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Dažnai (30–79%) | 2 ligose |
| SLC7A7solute carrier family 7 member 7 | Dažnai (30–79%) | 1 ligoje |
| SNCAsynuclein alpha | Dažnai (30–79%) | 2 ligose |
| SNORD118small nucleolar RNA, C/D box 118 | Dažnai (30–79%) | 1 ligoje |
| SOD1superoxide dismutase 1 | Dažnai (30–79%) | 1 ligoje |
| SPARTspartin | Dažnai (30–79%) | 1 ligoje |
| SPRsepiapterin reductase | Dažnai (30–79%) | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Dažnai (30–79%) | 2 ligose |
| TAF15TATA-box binding protein associated factor 15 | Dažnai (30–79%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Dažnai (30–79%) | 2 ligose |
| TBK1TANK binding kinase 1 | Dažnai (30–79%) | 1 ligoje |
| TMEM240transmembrane protein 240 | Dažnai (30–79%) | 2 ligose |
| TREM2triggering receptor expressed on myeloid cells 2 | Dažnai (30–79%) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Dažnai (30–79%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Dažnai (30–79%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Dažnai (30–79%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Dažnai (30–79%) | 2 ligose |
| UNC13Aunc-13 homolog A | Dažnai (30–79%) | 1 ligoje |
| VAPBVAMP associated protein B and C | Dažnai (30–79%) | 1 ligoje |
| VCPvalosin containing protein | Dažnai (30–79%) | 1 ligoje |
| WDPCPWD repeat containing planar cell polarity effector | Dažnai (30–79%) | 1 ligoje |
| ZFYVE26zinc finger FYVE-type containing 26 | Dažnai (30–79%) | 1 ligoje |
| AASSaminoadipate-semialdehyde synthase | Kartais (5–29%) | 2 ligose |
| ABCA5ATP binding cassette subfamily A member 5 | Kartais (5–29%) | 1 ligoje |
| ABCD1ATP binding cassette subfamily D member 1 | Kartais (5–29%) | 1 ligoje |
| ADGRV1adhesion G protein-coupled receptor V1 | Kartais (5–29%) | 1 ligoje |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Kartais (5–29%) | 2 ligose |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Kartais (5–29%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Kartais (5–29%) | 1 ligoje |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Kartais (5–29%) | 1 ligoje |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Kartais (5–29%) | 1 ligoje |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Kartais (5–29%) | 1 ligoje |
| ATMATM serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| BAP1BRCA1 associated deubiquitinase 1 | Kartais (5–29%) | 1 ligoje |
| BDNFbrain derived neurotrophic factor | Kartais (5–29%) | 1 ligoje |
| CABP4calcium binding protein 4 | Kartais (5–29%) | 1 ligoje |
| CCM2CCM2 scaffold protein | Kartais (5–29%) | 1 ligoje |
| CHRM3cholinergic receptor muscarinic 3 | Kartais (5–29%) | 1 ligoje |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Kartais (5–29%) | 1 ligoje |
| CHRNA4cholinergic receptor nicotinic alpha 4 subunit | Kartais (5–29%) | 1 ligoje |
| CHRNB2cholinergic receptor nicotinic beta 2 subunit | Kartais (5–29%) | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Kartais (5–29%) | 1 ligoje |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Kartais (5–29%) | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Kartais (5–29%) | 1 ligoje |
| COQ4coenzyme Q4 | Kartais (5–29%) | 1 ligoje |
| CPA6carboxypeptidase A6 | Kartais (5–29%) | 1 ligoje |
| CRHcorticotropin releasing hormone | Kartais (5–29%) | 1 ligoje |
| CSF1Rcolony stimulating factor 1 receptor | Kartais (5–29%) | 1 ligoje |
| CTNScystinosin, lysosomal cystine transporter | Kartais (5–29%) | 1 ligoje |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Kartais (5–29%) | 2 ligose |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Kartais (5–29%) | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Kartais (5–29%) | 2 ligose |
| DGUOKdeoxyguanosine kinase | Kartais (5–29%) | 1 ligoje |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Kartais (5–29%) | 1 ligoje |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Kartais (5–29%) | 2 ligose |
| DSG4desmoglein 4 | Kartais (5–29%) | 1 ligoje |
| EDN3endothelin 3 | Kartais (5–29%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Kartais (5–29%) | 1 ligoje |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Kartais (5–29%) | 1 ligoje |
| ERLIN1ER lipid raft associated 1 | Kartais (5–29%) | 1 ligoje |
| FGF13fibroblast growth factor 13 | Kartais (5–29%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Kartais (5–29%) | 1 ligoje |
| GCDHglutaryl-CoA dehydrogenase | Kartais (5–29%) | 1 ligoje |
| GDF3growth differentiation factor 3 | Kartais (5–29%) | 1 ligoje |
| GDF6growth differentiation factor 6 | Kartais (5–29%) | 1 ligoje |
| GDNFglial cell derived neurotrophic factor | Kartais (5–29%) | 1 ligoje |
| GNA11G protein subunit alpha 11 | Kartais (5–29%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Kartais (5–29%) | 1 ligoje |
| GPC4glypican 4 | Kartais (5–29%) | 1 ligoje |
| GTPBP3GTP binding protein 3, mitochondrial | Kartais (5–29%) | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Kartais (5–29%) | 1 ligoje |
| HTRA2HtrA serine peptidase 2 | Kartais (5–29%) | 1 ligoje |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Kartais (5–29%) | 1 ligoje |
| KCND3potassium voltage-gated channel subfamily D member 3 | Kartais (5–29%) | 1 ligoje |
| KMT2Blysine methyltransferase 2B | Kartais (5–29%) | 1 ligoje |
| KRIT1KRIT1 ankyrin repeat containing | Kartais (5–29%) | 1 ligoje |
| KRT81keratin 81 | Kartais (5–29%) | 1 ligoje |
| KRT83keratin 83 | Kartais (5–29%) | 1 ligoje |
| KRT86keratin 86 | Kartais (5–29%) | 1 ligoje |
| LAMA2laminin subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| LBX1ladybird homeobox 1 | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| LRRK2leucine rich repeat kinase 2 | Kartais (5–29%) | 1 ligoje |
| LYSTlysosomal trafficking regulator | Kartais (5–29%) | 1 ligoje |
| MEOX1mesenchyme homeobox 1 | Kartais (5–29%) | 1 ligoje |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Kartais (5–29%) | 1 ligoje |
| MTHFRmethylenetetrahydrofolate reductase | Kartais (5–29%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Kartais (5–29%) | 1 ligoje |
| MYO1Hmyosin IH | Kartais (5–29%) | 1 ligoje |
| NAGSN-acetylglutamate synthase | Kartais (5–29%) | 2 ligose |
| NEFLneurofilament light chain | Kartais (5–29%) | 1 ligoje |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Kartais (5–29%) | 1 ligoje |
| NKX6-2NK6 homeobox 2 | Kartais (5–29%) | 1 ligoje |
| NPRL2NPR2 like, GATOR1 complex subunit | Kartais (5–29%) | 1 ligoje |
| NPRL3NPR3 like, GATOR1 complex subunit | Kartais (5–29%) | 1 ligoje |
| PARK7Parkinsonism associated deglycase | Kartais (5–29%) | 1 ligoje |
| PDCD10programmed cell death 10 | Kartais (5–29%) | 1 ligoje |
| PDGFBplatelet derived growth factor subunit B | Kartais (5–29%) | 2 ligose |
| PHOX2Bpaired like homeobox 2B | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 2 ligose |
| PINK1PTEN induced kinase 1 | Kartais (5–29%) | 1 ligoje |
| PODXLpodocalyxin like | Kartais (5–29%) | 1 ligoje |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Kartais (5–29%) | 1 ligoje |
| PRKCGprotein kinase C gamma | Kartais (5–29%) | 1 ligoje |
| PRKNparkin RBR E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Kartais (5–29%) | 1 ligoje |
| PRRT2proline rich transmembrane protein 2 | Kartais (5–29%) | 1 ligoje |
| RAB3ARAB3A, member RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RBM12RNA binding motif protein 12 | Kartais (5–29%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Kartais (5–29%) | 1 ligoje |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 1 ligoje |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Kartais (5–29%) | 2 ligose |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Kartais (5–29%) | 1 ligoje |
| SIGMAR1sigma receptor chaperone 1 | Kartais (5–29%) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC37A4solute carrier family 37 member 4 | Kartais (5–29%) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Kartais (5–29%) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Kartais (5–29%) | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Kartais (5–29%) | 1 ligoje |
| SORDsorbitol dehydrogenase | Kartais (5–29%) | 1 ligoje |
| SPASTspastin | Kartais (5–29%) | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Kartais (5–29%) | 1 ligoje |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Kartais (5–29%) | 2 ligose |
| SPTBN1spectrin beta, non-erythrocytic 1 | Kartais (5–29%) | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Kartais (5–29%) | 1 ligoje |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Kartais (5–29%) | 1 ligoje |
| STARD7StAR related lipid transfer domain containing 7 | Kartais (5–29%) | 1 ligoje |
| STX1Bsyntaxin 1B | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Kartais (5–29%) | 1 ligoje |
| SYNJ1synaptojanin 1 | Kartais (5–29%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Kartais (5–29%) | 1 ligoje |
| TERTtelomerase reverse transcriptase | Kartais (5–29%) | 1 ligoje |
| THAP11THAP domain containing 11 | Kartais (5–29%) | 1 ligoje |
| TP53tumor protein p53 | Kartais (5–29%) | 1 ligoje |
| TRAF7TNF receptor associated factor 7 | Kartais (5–29%) | 1 ligoje |
| TRMT2BtRNA methyltransferase 2B | Kartais (5–29%) | 1 ligoje |
| TSC1TSC complex subunit 1 | Kartais (5–29%) | 2 ligose |
| TSC2TSC complex subunit 2 | Kartais (5–29%) | 2 ligose |
| TWNKtwinkle mtDNA helicase | Kartais (5–29%) | 3 ligose |
| UCHL1ubiquitin C-terminal hydrolase L1 | Kartais (5–29%) | 1 ligoje |
| VPS13Cvacuolar protein sorting 13 homolog C | Kartais (5–29%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Retai (1–4 %) | 1 ligoje |
| ARMC5armadillo repeat containing 5 | Retai (1–4 %) | 1 ligoje |
| DNM1Ldynamin 1L | Retai (1–4 %) | 1 ligoje |
| DZIP1LDAZ interacting zinc finger protein 1 like | Retai (1–4 %) | 1 ligoje |
| GNASGNAS complex locus | Retai (1–4 %) | 4 ligose |
| IRAK1interleukin 1 receptor associated kinase 1 | Retai (1–4 %) | 1 ligoje |
| KDM1Alysine demethylase 1A | Retai (1–4 %) | 1 ligoje |
| KIF5Akinesin family member 5A | Retai (1–4 %) | 1 ligoje |
| OPA1OPA1 mitochondrial dynamin like GTPase | Retai (1–4 %) | 1 ligoje |
| PABPN1poly(A) binding protein nuclear 1 | Retai (1–4 %) | 1 ligoje |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Retai (1–4 %) | 1 ligoje |
| POLG2DNA polymerase gamma 2, accessory subunit | Retai (1–4 %) | 1 ligoje |
| PPIBpeptidylprolyl isomerase B | Retai (1–4 %) | 1 ligoje |
| RRM1ribonucleotide reductase catalytic subunit M1 | Retai (1–4 %) | 1 ligoje |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Retai (1–4 %) | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Retai (1–4 %) | 1 ligoje |
| SPP1secreted phosphoprotein 1 | Retai (1–4 %) | 1 ligoje |
| SPRED1sprouty related EVH1 domain containing 1 | Retai (1–4 %) | 1 ligoje |
| STAT4signal transducer and activator of transcription 4 | Retai (1–4 %) | 1 ligoje |
| TK2thymidine kinase 2 | Retai (1–4 %) | 1 ligoje |
| TOP3ADNA topoisomerase III alpha | Retai (1–4 %) | 1 ligoje |
| UBA1ubiquitin like modifier activating enzyme 1 | Retai (1–4 %) | 1 ligoje |
| ADD3adducin 3 | Neužfiksuota | 1 ligoje |
| APOEapolipoprotein E | Neužfiksuota | 1 ligoje |
| APTXaprataxin | Neužfiksuota | 1 ligoje |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Neužfiksuota | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Neužfiksuota | 1 ligoje |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Neužfiksuota | 1 ligoje |
| CFHcomplement factor H | Neužfiksuota | 1 ligoje |
| CFHR1complement factor H related 1 | Neužfiksuota | 1 ligoje |
| CFHR3complement factor H related 3 | Neužfiksuota | 1 ligoje |
| CTDP1CTD phosphatase 1 | Neužfiksuota | 1 ligoje |
| GLRX5glutaredoxin 5 | Neužfiksuota | 1 ligoje |
| IBA57iron-sulfur cluster assembly factor IBA57 | Neužfiksuota | 1 ligoje |
| MAGmyelin associated glycoprotein | Neužfiksuota | 1 ligoje |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Neužfiksuota | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Neužfiksuota | 1 ligoje |
| NAGAalpha-N-acetylgalactosaminidase | Neužfiksuota | 1 ligoje |
| NFIAnuclear factor I A | Neužfiksuota | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Neužfiksuota | 1 ligoje |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Neužfiksuota | 1 ligoje |
| PRDM8PR/SET domain 8 | Neužfiksuota | 1 ligoje |
| PSEN2presenilin 2 | Neužfiksuota | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Neužfiksuota | 1 ligoje |
| SKIC3SKI3 subunit of superkiller complex | Neužfiksuota | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Neužfiksuota | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Neužfiksuota | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Neužfiksuota | 1 ligoje |
| SOSTsclerostin | Neužfiksuota | 1 ligoje |
| SPTBN2spectrin beta, non-erythrocytic 2 | Neužfiksuota | 1 ligoje |
| TSFMTs translation elongation factor, mitochondrial | Neužfiksuota | 1 ligoje |
| TTC19tetratricopeptide repeat domain 19 | Neužfiksuota | 1 ligoje |
| VPS37AVPS37A subunit of ESCRT-I | Neužfiksuota | 1 ligoje |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Neužfiksuota | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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