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Piirre
EEG abnormality
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Yhteenveto
- Tunnetaan myös nimellä
- Abnormal EEG, Abnormal electroencephalogram, EEG abnormalities, Electroencephalogram abnormal, Electroencephalogram abnormalities
- Elimistön järjestelmä
- Abnormality of the nervous system
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Kirjaudu sisäänKysyAloitaalkaen 449 $
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/eeg-abnormality.json"
page <- fromJSON(url)
page$trait$nameEEG abnormalityHP:0002353
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Lue EEG abnormality-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test308 geeniä, jotka liittyvät piirteeseen EEG abnormality
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa EEG abnormality esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| AHDC1AT-hook DNA binding motif containing 1 | Aina | 2 sairaudessa |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Aina | 1 sairaudessa |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Aina | 1 sairaudessa |
| CCDC47coiled-coil domain containing 47 | Aina | 1 sairaudessa |
| CEP85Lcentrosomal protein 85L | Aina | 1 sairaudessa |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Aina | 1 sairaudessa |
| COG3component of oligomeric golgi complex 3 | Aina | 1 sairaudessa |
| COX16cytochrome c oxidase assembly factor COX16 | Aina | 1 sairaudessa |
| CTNNA2catenin alpha 2 | Aina | 1 sairaudessa |
| CUX2cut like homeobox 2 | Aina | 2 sairaudessa |
| DEAF1DEAF1 transcription factor | Aina | 1 sairaudessa |
| DENND5ADENN domain containing 5A | Aina | 1 sairaudessa |
| DHPSdeoxyhypusine synthase | Aina | 1 sairaudessa |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Aina | 1 sairaudessa |
| FAM177A1family with sequence similarity 177 member A1 | Aina | 1 sairaudessa |
| GNB2G protein subunit beta 2 | Aina | 1 sairaudessa |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Aina | 3 sairaudessa |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Aina | 1 sairaudessa |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Aina | 1 sairaudessa |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Aina | 1 sairaudessa |
| LRRC7leucine rich repeat containing 7 | Aina | 1 sairaudessa |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Aina | 1 sairaudessa |
| MED23mediator complex subunit 23 | Aina | 1 sairaudessa |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Aina | 1 sairaudessa |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Aina | 1 sairaudessa |
| PDE2Aphosphodiesterase 2A | Aina | 1 sairaudessa |
| RTTNrotatin | Aina | 1 sairaudessa |
| SLC1A2solute carrier family 1 member 2 | Aina | 1 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Aina | 2 sairaudessa |
| SPTBN4spectrin beta, non-erythrocytic 4 | Aina | 1 sairaudessa |
| TMEM63Btransmembrane protein 63B | Aina | 1 sairaudessa |
| TOP2BDNA topoisomerase II beta | Aina | 1 sairaudessa |
| TRIT1tRNA isopentenyltransferase 1 | Aina | 1 sairaudessa |
| UBE3Aubiquitin protein ligase E3A | Aina | 5 sairaudessa |
| VAMP2vesicle associated membrane protein 2 | Aina | 1 sairaudessa |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Aina | 2 sairaudessa |
| WWOXWW domain containing oxidoreductase | Aina | 2 sairaudessa |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Aina | 1 sairaudessa |
| ABAT4-aminobutyrate aminotransferase | Hyvin usein (80–99%) | 1 sairaudessa |
Näytä 268 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ACOX1acyl-CoA oxidase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ADRA2Badrenoceptor alpha 2B | Hyvin usein (80–99%) | 1 sairaudessa |
| AFG2AAAA ATPase AFG2A | Hyvin usein (80–99%) | 2 sairaudessa |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Hyvin usein (80–99%) | 1 sairaudessa |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Hyvin usein (80–99%) | 4 sairaudessa |
| CASZ1castor zinc finger 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CDKL5cyclin dependent kinase like 5 | Hyvin usein (80–99%) | 2 sairaudessa |
| CLTRNcollectrin, amino acid transport regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| CNTN2contactin 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNTNAP2contactin associated protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| CPLX1complexin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CRPPACDP-L-ribitol pyrophosphorylase A | Hyvin usein (80–99%) | 1 sairaudessa |
| CTBP1C-terminal binding protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CTNND2catenin delta 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| DDB2damage specific DNA binding protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Hyvin usein (80–99%) | 1 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC5ERCC excision repair 5, endonuclease | Hyvin usein (80–99%) | 1 sairaudessa |
| FGFRL1fibroblast growth factor receptor like 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FKRPfukutin related protein | Hyvin usein (80–99%) | 1 sairaudessa |
| FKTNfukutin | Hyvin usein (80–99%) | 2 sairaudessa |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Hyvin usein (80–99%) | 1 sairaudessa |
| GMPPBGDP-mannose pyrophosphorylase B | Hyvin usein (80–99%) | 1 sairaudessa |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| HIC1HIC ZBTB transcriptional repressor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| HRASHRas proto-oncogene, GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| HSPG2heparan sulfate proteoglycan 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Hyvin usein (80–99%) | 2 sairaudessa |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LUZP1leucine zipper protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MADDMAP kinase activating death domain | Hyvin usein (80–99%) | 2 sairaudessa |
| MARCHF6membrane associated ring-CH-type finger 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Hyvin usein (80–99%) | 5 sairaudessa |
| MMP23Bmatrix metallopeptidase 23B | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Hyvin usein (80–99%) | 1 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| NSD2nuclear receptor binding SET domain protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NTNG1netrin G1 | Hyvin usein (80–99%) | 1 sairaudessa |
| OCA2OCA2 melanosomal transmembrane protein | Hyvin usein (80–99%) | 1 sairaudessa |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PDPNpodoplanin | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX10peroxisomal biogenesis factor 10 | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX11Bperoxisomal biogenesis factor 11 beta | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX12peroxisomal biogenesis factor 12 | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX13peroxisomal biogenesis factor 13 | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX14peroxisomal biogenesis factor 14 | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX16peroxisomal biogenesis factor 16 | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX19peroxisomal biogenesis factor 19 | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX2peroxisomal biogenesis factor 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX26peroxisomal biogenesis factor 26 | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX3peroxisomal biogenesis factor 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Hyvin usein (80–99%) | 2 sairaudessa |
| PEX6peroxisomal biogenesis factor 6 | Hyvin usein (80–99%) | 2 sairaudessa |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Hyvin usein (80–99%) | 2 sairaudessa |
| POMT1protein O-mannosyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| POMT2protein O-mannosyltransferase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PPFIA3PPFI scaffold protein A3 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRDM16PR/SET domain 16 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRKCZprotein kinase C zeta | Hyvin usein (80–99%) | 1 sairaudessa |
| PRRT2proline rich transmembrane protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| REREarginine-glutamic acid dipeptide repeats | Hyvin usein (80–99%) | 1 sairaudessa |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Hyvin usein (80–99%) | 1 sairaudessa |
| ROGDIrogdi atypical leucine zipper | Hyvin usein (80–99%) | 1 sairaudessa |
| SAMD12sterile alpha motif domain containing 12 | Hyvin usein (80–99%) | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SKISKI proto-oncogene | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC12A6solute carrier family 12 member 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC13A5solute carrier family 13 member 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC2A1solute carrier family 2 member 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| SLC6A19solute carrier family 6 member 19 | Hyvin usein (80–99%) | 1 sairaudessa |
| SPENspen family transcriptional repressor | Hyvin usein (80–99%) | 1 sairaudessa |
| SYT1synaptotagmin 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| TBC1D24TBC1 domain family member 24 | Hyvin usein (80–99%) | 1 sairaudessa |
| TBK1TANK binding kinase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| TICAM1TIR domain containing adaptor molecule 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TIMM50translocase of inner mitochondrial membrane 50 | Hyvin usein (80–99%) | 1 sairaudessa |
| TLR3toll like receptor 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Hyvin usein (80–99%) | 1 sairaudessa |
| TRAF3TNF receptor associated factor 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| UBE4Bubiquitination factor E4B | Hyvin usein (80–99%) | 1 sairaudessa |
| UNC93B1unc-93B1 regulator of TLR signaling | Hyvin usein (80–99%) | 1 sairaudessa |
| XPAXPA, DNA damage recognition and repair factor | Hyvin usein (80–99%) | 1 sairaudessa |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Hyvin usein (80–99%) | 1 sairaudessa |
| YEATS2YEATS domain containing 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Hyvin usein (80–99%) | 1 sairaudessa |
| ZNHIT3zinc finger HIT-type containing 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| ABCA5ATP binding cassette subfamily A member 5 | Usein (30–79%) | 1 sairaudessa |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Usein (30–79%) | 1 sairaudessa |
| AHSGalpha 2-HS glycoprotein | Usein (30–79%) | 1 sairaudessa |
| ANKRD17ankyrin repeat domain 17 | Usein (30–79%) | 1 sairaudessa |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Usein (30–79%) | 1 sairaudessa |
| ARG1arginase 1 | Usein (30–79%) | 1 sairaudessa |
| ARXaristaless related homeobox | Usein (30–79%) | 3 sairaudessa |
| ASLargininosuccinate lyase | Usein (30–79%) | 1 sairaudessa |
| ATP10AATPase phospholipid transporting 10A (putative) | Usein (30–79%) | 1 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Usein (30–79%) | 1 sairaudessa |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Usein (30–79%) | 2 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Usein (30–79%) | 1 sairaudessa |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Usein (30–79%) | 1 sairaudessa |
| CHD2chromodomain helicase DNA binding protein 2 | Usein (30–79%) | 1 sairaudessa |
| CLCN6Cl-/H+ antiporter 6 | Usein (30–79%) | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Usein (30–79%) | 3 sairaudessa |
| DMXL2Dmx like 2 | Usein (30–79%) | 1 sairaudessa |
| DNM1dynamin 1 | Usein (30–79%) | 1 sairaudessa |
| DNM1Ldynamin 1L | Usein (30–79%) | 1 sairaudessa |
| DPYDdihydropyrimidine dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| FOXG1forkhead box G1 | Usein (30–79%) | 1 sairaudessa |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Usein (30–79%) | 1 sairaudessa |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Usein (30–79%) | 1 sairaudessa |
| GFM1G elongation factor mitochondrial 1 | Usein (30–79%) | 1 sairaudessa |
| GNAO1G protein subunit alpha o1 | Usein (30–79%) | 1 sairaudessa |
| GNB1G protein subunit beta 1 | Usein (30–79%) | 1 sairaudessa |
| GON7GON7 subunit of KEOPS complex | Usein (30–79%) | 1 sairaudessa |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Usein (30–79%) | 1 sairaudessa |
| GRM7glutamate metabotropic receptor 7 | Usein (30–79%) | 1 sairaudessa |
| GTF3C3general transcription factor IIIC subunit 3 | Usein (30–79%) | 1 sairaudessa |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Usein (30–79%) | 2 sairaudessa |
| ITGB6integrin subunit beta 6 | Usein (30–79%) | 1 sairaudessa |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Usein (30–79%) | 1 sairaudessa |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Usein (30–79%) | 1 sairaudessa |
| LAGE3L antigen family member 3 | Usein (30–79%) | 1 sairaudessa |
| LGI1leucine rich glioma inactivated 1 | Usein (30–79%) | 1 sairaudessa |
| LSSlanosterol synthase | Usein (30–79%) | 1 sairaudessa |
| MAFMAF bZIP transcription factor | Usein (30–79%) | 1 sairaudessa |
| MAP2K1mitogen-activated protein kinase kinase 1 | Usein (30–79%) | 1 sairaudessa |
| MAP2K2mitogen-activated protein kinase kinase 2 | Usein (30–79%) | 1 sairaudessa |
| MAPK10mitogen-activated protein kinase 10 | Usein (30–79%) | 1 sairaudessa |
| MARK2microtubule affinity regulating kinase 2 | Usein (30–79%) | 1 sairaudessa |
| MCOLN1mucolipin TRP cation channel 1 | Usein (30–79%) | 1 sairaudessa |
| MFFmitochondrial fission factor | Usein (30–79%) | 1 sairaudessa |
| MSL2MSL complex subunit 2 | Usein (30–79%) | 1 sairaudessa |
| NAXDNAD(P)HX dehydratase | Usein (30–79%) | 1 sairaudessa |
| NEU1neuraminidase 1 | Usein (30–79%) | 1 sairaudessa |
| NEUROD2neuronal differentiation 2 | Usein (30–79%) | 1 sairaudessa |
| NGLY1N-glycanase 1 | Usein (30–79%) | 1 sairaudessa |
| NLGN3neuroligin 3 | Usein (30–79%) | 2 sairaudessa |
| NLGN4Xneuroligin 4 X-linked | Usein (30–79%) | 2 sairaudessa |
| NOTCH2NLCnotch 2 N-terminal like C | Usein (30–79%) | 1 sairaudessa |
| NOTCH3notch receptor 3 | Usein (30–79%) | 1 sairaudessa |
| NTNG2netrin G2 | Usein (30–79%) | 1 sairaudessa |
| NUP107nucleoporin 107 | Usein (30–79%) | 1 sairaudessa |
| NUP133nucleoporin 133 | Usein (30–79%) | 1 sairaudessa |
| NUP188nucleoporin 188 | Usein (30–79%) | 1 sairaudessa |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Usein (30–79%) | 1 sairaudessa |
| OSGEPO-sialoglycoprotein endopeptidase | Usein (30–79%) | 1 sairaudessa |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Usein (30–79%) | 1 sairaudessa |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Usein (30–79%) | 1 sairaudessa |
| PNKPpolynucleotide kinase 3'-phosphatase | Usein (30–79%) | 1 sairaudessa |
| PRUNE1prune exopolyphosphatase 1 | Usein (30–79%) | 1 sairaudessa |
| PTRH2peptidyl-tRNA hydrolase 2 | Usein (30–79%) | 1 sairaudessa |
| PURApurine rich element binding protein A | Usein (30–79%) | 1 sairaudessa |
| RAI1retinoic acid induced 1 | Usein (30–79%) | 4 sairaudessa |
| RCC1regulator of chromosome condensation 1 | Usein (30–79%) | 1 sairaudessa |
| RHOBTB2Rho related BTB domain containing 2 | Usein (30–79%) | 2 sairaudessa |
| SATB1SATB homeobox 1 | Usein (30–79%) | 2 sairaudessa |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Usein (30–79%) | 1 sairaudessa |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Usein (30–79%) | 2 sairaudessa |
| SIK1salt inducible kinase 1 | Usein (30–79%) | 1 sairaudessa |
| SLC25A22solute carrier family 25 member 22 | Usein (30–79%) | 1 sairaudessa |
| SLC32A1solute carrier family 32 member 1 | Usein (30–79%) | 1 sairaudessa |
| SLC9A6solute carrier family 9 member A6 | Usein (30–79%) | 1 sairaudessa |
| SNF8SNF8 subunit of ESCRT-II | Usein (30–79%) | 1 sairaudessa |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Usein (30–79%) | 2 sairaudessa |
| SPTBN1spectrin beta, non-erythrocytic 1 | Usein (30–79%) | 1 sairaudessa |
| TET3tet methylcytosine dioxygenase 3 | Usein (30–79%) | 1 sairaudessa |
| TP53RKTP53 regulating kinase | Usein (30–79%) | 1 sairaudessa |
| TPRKBTP53RK binding protein | Usein (30–79%) | 1 sairaudessa |
| TRIM8tripartite motif containing 8 | Usein (30–79%) | 1 sairaudessa |
| UBTFupstream binding transcription factor | Usein (30–79%) | 1 sairaudessa |
| WDR73WD repeat domain 73 | Usein (30–79%) | 1 sairaudessa |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Usein (30–79%) | 1 sairaudessa |
| ZEB2zinc finger E-box binding homeobox 2 | Usein (30–79%) | 2 sairaudessa |
| ANKRD11ankyrin repeat domain 11 | Joskus (5–29%) | 1 sairaudessa |
| ARHGAP31Rho GTPase activating protein 31 | Joskus (5–29%) | 1 sairaudessa |
| BCL11ABCL11 transcription factor A | Joskus (5–29%) | 1 sairaudessa |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Joskus (5–29%) | 1 sairaudessa |
| CBScystathionine beta-synthase | Joskus (5–29%) | 1 sairaudessa |
| CUL4Bcullin 4B | Joskus (5–29%) | 1 sairaudessa |
| DDCdopa decarboxylase | Joskus (5–29%) | 1 sairaudessa |
| DLL4delta like canonical Notch ligand 4 | Joskus (5–29%) | 1 sairaudessa |
| DOCK6dedicator of cytokinesis 6 | Joskus (5–29%) | 1 sairaudessa |
| EMC1ER membrane protein complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Joskus (5–29%) | 1 sairaudessa |
| FDXRferredoxin reductase | Joskus (5–29%) | 1 sairaudessa |
| FOXP1forkhead box P1 | Joskus (5–29%) | 1 sairaudessa |
| GALCgalactosylceramidase | Joskus (5–29%) | 2 sairaudessa |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Joskus (5–29%) | 1 sairaudessa |
| KDM6Alysine demethylase 6A | Joskus (5–29%) | 1 sairaudessa |
| KMT2Dlysine methyltransferase 2D | Joskus (5–29%) | 1 sairaudessa |
| MED13Lmediator complex subunit 13L | Joskus (5–29%) | 1 sairaudessa |
| NDPnorrin cystine knot growth factor NDP | Joskus (5–29%) | 1 sairaudessa |
| NECTIN1nectin cell adhesion molecule 1 | Joskus (5–29%) | 1 sairaudessa |
| NLRP3NLR family pyrin domain containing 3 | Joskus (5–29%) | 1 sairaudessa |
| NOTCH1notch receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| PLCH1phospholipase C eta 1 | Joskus (5–29%) | 1 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Joskus (5–29%) | 1 sairaudessa |
| PRNPprion protein (Kanno blood group) | Joskus (5–29%) | 1 sairaudessa |
| PSAPprosaposin | Joskus (5–29%) | 1 sairaudessa |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Joskus (5–29%) | 1 sairaudessa |
| RELREL proto-oncogene, NF-kB subunit | Joskus (5–29%) | 1 sairaudessa |
| SLC44A1solute carrier family 44 member 1 | Joskus (5–29%) | 1 sairaudessa |
| SMSspermine synthase | Joskus (5–29%) | 1 sairaudessa |
| WDR62WD repeat domain 62 | Joskus (5–29%) | 1 sairaudessa |
| XPO1exportin 1 | Joskus (5–29%) | 1 sairaudessa |
| ANTXR1ANTXR cell adhesion molecule 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| EP300EP300 lysine acetyltransferase | Harvinainen (1–4 %) | 2 sairaudessa |
| RUSC2RUN and SH3 domain containing 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| TRAPPC11trafficking protein particle complex subunit 11 | Harvinainen (1–4 %) | 1 sairaudessa |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Ei kirjattu | 1 sairaudessa |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Ei kirjattu | 1 sairaudessa |
| APOL2apolipoprotein L2 | Ei kirjattu | 1 sairaudessa |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ei kirjattu | 1 sairaudessa |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ei kirjattu | 1 sairaudessa |
| CHI3L1chitinase 3 like 1 | Ei kirjattu | 1 sairaudessa |
| CLN8CLN8 transmembrane ER and ERGIC protein | Ei kirjattu | 2 sairaudessa |
| DAOAD-amino acid oxidase activator | Ei kirjattu | 1 sairaudessa |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ei kirjattu | 1 sairaudessa |
| DISC2disrupted in schizophrenia 2 | Ei kirjattu | 1 sairaudessa |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Ei kirjattu | 1 sairaudessa |
| DRD3dopamine receptor D3 | Ei kirjattu | 1 sairaudessa |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| FGF12fibroblast growth factor 12 | Ei kirjattu | 1 sairaudessa |
| FLCNfolliculin | Ei kirjattu | 1 sairaudessa |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ei kirjattu | 1 sairaudessa |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ei kirjattu | 1 sairaudessa |
| HTR2A5-hydroxytryptamine receptor 2A | Ei kirjattu | 1 sairaudessa |
| IREB2iron responsive element binding protein 2 | Ei kirjattu | 1 sairaudessa |
| LAMC3laminin subunit gamma 3 | Ei kirjattu | 1 sairaudessa |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| MFSD8major facilitator superfamily domain containing 8 | Ei kirjattu | 1 sairaudessa |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ei kirjattu | 1 sairaudessa |
| MTHFRmethylenetetrahydrofolate reductase | Ei kirjattu | 1 sairaudessa |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Ei kirjattu | 1 sairaudessa |
| PCK1phosphoenolpyruvate carboxykinase 1 | Ei kirjattu | 1 sairaudessa |
| PHF6PHD finger protein 6 | Ei kirjattu | 1 sairaudessa |
| PPT1palmitoyl-protein thioesterase 1 | Ei kirjattu | 1 sairaudessa |
| PRODHproline dehydrogenase 1 | Ei kirjattu | 1 sairaudessa |
| RTN4Rreticulon 4 receptor | Ei kirjattu | 1 sairaudessa |
| SLC1A3solute carrier family 1 member 3 | Ei kirjattu | 1 sairaudessa |
| SNIP1Smad nuclear interacting protein 1 | Ei kirjattu | 1 sairaudessa |
| SYN2synapsin II | Ei kirjattu | 1 sairaudessa |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ei kirjattu | 1 sairaudessa |
| SZT2SZT2 subunit of KICSTOR complex | Ei kirjattu | 1 sairaudessa |
| TREM2triggering receptor expressed on myeloid cells 2 | Ei kirjattu | 2 sairaudessa |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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