Požymis
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.
Santrauka
- Taip pat vadinama
- Abnormal EEG, Abnormal electroencephalogram, EEG abnormalities, Electroencephalogram abnormal, Electroencephalogram abnormalities
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia EEG abnormality. 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 |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Visada | 2 ligose |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Visada | 1 ligoje |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Visada | 1 ligoje |
| CCDC47coiled-coil domain containing 47 | Visada | 1 ligoje |
| CEP85Lcentrosomal protein 85L | Visada | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Visada | 1 ligoje |
| COG3component of oligomeric golgi complex 3 | Visada | 1 ligoje |
| COX16cytochrome c oxidase assembly factor COX16 | Visada | 1 ligoje |
| CTNNA2catenin alpha 2 | Visada | 1 ligoje |
| CUX2cut like homeobox 2 | Visada | 2 ligose |
| DEAF1DEAF1 transcription factor | Visada | 1 ligoje |
| DENND5ADENN domain containing 5A | Visada | 1 ligoje |
| DHPSdeoxyhypusine synthase | Visada | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Visada | 1 ligoje |
| FAM177A1family with sequence similarity 177 member A1 | Visada | 1 ligoje |
| GNB2G protein subunit beta 2 | Visada | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Visada | 3 ligose |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Visada | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Visada | 1 ligoje |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Visada | 1 ligoje |
| MED23mediator complex subunit 23 | Visada | 1 ligoje |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Visada | 1 ligoje |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| PDE2Aphosphodiesterase 2A | Visada | 1 ligoje |
| RTTNrotatin | Visada | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Visada | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 2 ligose |
| SPTBN4spectrin beta, non-erythrocytic 4 | Visada | 1 ligoje |
| TMEM63Btransmembrane protein 63B | Visada | 1 ligoje |
| TOP2BDNA topoisomerase II beta | Visada | 1 ligoje |
| TRIT1tRNA isopentenyltransferase 1 | Visada | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Visada | 5 ligose |
| VAMP2vesicle associated membrane protein 2 | Visada | 1 ligoje |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Visada | 2 ligose |
| WWOXWW domain containing oxidoreductase | Visada | 2 ligose |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Visada | 1 ligoje |
| ABAT4-aminobutyrate aminotransferase | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 268 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ACOX1acyl-CoA oxidase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ADRA2Badrenoceptor alpha 2B | Labai dažnai (80–99%) | 1 ligoje |
| AFG2AAAA ATPase AFG2A | Labai dažnai (80–99%) | 2 ligose |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Labai dažnai (80–99%) | 2 ligose |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Labai dažnai (80–99%) | 1 ligoje |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Labai dažnai (80–99%) | 4 ligose |
| CASZ1castor zinc finger 1 | Labai dažnai (80–99%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Labai dažnai (80–99%) | 2 ligose |
| CLTRNcollectrin, amino acid transport regulator | Labai dažnai (80–99%) | 1 ligoje |
| CNTN2contactin 2 | Labai dažnai (80–99%) | 1 ligoje |
| CNTNAP2contactin associated protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| CPLX1complexin 1 | Labai dažnai (80–99%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Labai dažnai (80–99%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| CTNND2catenin delta 2 | Labai dažnai (80–99%) | 1 ligoje |
| DDB2damage specific DNA binding protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Labai dažnai (80–99%) | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | 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 |
| FGFRL1fibroblast growth factor receptor like 1 | Labai dažnai (80–99%) | 1 ligoje |
| FKRPfukutin related protein | Labai dažnai (80–99%) | 1 ligoje |
| FKTNfukutin | Labai dažnai (80–99%) | 2 ligose |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Labai dažnai (80–99%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Labai dažnai (80–99%) | 1 ligoje |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Labai dažnai (80–99%) | 2 ligose |
| HIC1HIC ZBTB transcriptional repressor 1 | Labai dažnai (80–99%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Labai dažnai (80–99%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 2 ligose |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| MADDMAP kinase activating death domain | Labai dažnai (80–99%) | 2 ligose |
| MARCHF6membrane associated ring-CH-type finger 6 | Labai dažnai (80–99%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Labai dažnai (80–99%) | 5 ligose |
| MMP23Bmatrix metallopeptidase 23B | Labai dažnai (80–99%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Labai dažnai (80–99%) | 1 ligoje |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Labai dažnai (80–99%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Labai dažnai (80–99%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Labai dažnai (80–99%) | 1 ligoje |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Labai dažnai (80–99%) | 1 ligoje |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Labai dažnai (80–99%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Labai dažnai (80–99%) | 1 ligoje |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Labai dažnai (80–99%) | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Labai dažnai (80–99%) | 1 ligoje |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Labai dažnai (80–99%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Labai dažnai (80–99%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| NTNG1netrin G1 | Labai dažnai (80–99%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Labai dažnai (80–99%) | 1 ligoje |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| PDPNpodoplanin | Labai dažnai (80–99%) | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Labai dažnai (80–99%) | 2 ligose |
| PEX10peroxisomal biogenesis factor 10 | Labai dažnai (80–99%) | 2 ligose |
| PEX11Bperoxisomal biogenesis factor 11 beta | Labai dažnai (80–99%) | 2 ligose |
| PEX12peroxisomal biogenesis factor 12 | Labai dažnai (80–99%) | 2 ligose |
| PEX13peroxisomal biogenesis factor 13 | Labai dažnai (80–99%) | 2 ligose |
| PEX14peroxisomal biogenesis factor 14 | Labai dažnai (80–99%) | 2 ligose |
| PEX16peroxisomal biogenesis factor 16 | Labai dažnai (80–99%) | 2 ligose |
| PEX19peroxisomal biogenesis factor 19 | Labai dažnai (80–99%) | 2 ligose |
| PEX2peroxisomal biogenesis factor 2 | Labai dažnai (80–99%) | 2 ligose |
| PEX26peroxisomal biogenesis factor 26 | Labai dažnai (80–99%) | 2 ligose |
| PEX3peroxisomal biogenesis factor 3 | Labai dažnai (80–99%) | 2 ligose |
| PEX5peroxisomal biogenesis factor 5 | Labai dažnai (80–99%) | 2 ligose |
| PEX6peroxisomal biogenesis factor 6 | Labai dažnai (80–99%) | 2 ligose |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Labai dažnai (80–99%) | 2 ligose |
| POMT1protein O-mannosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Labai dažnai (80–99%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Labai dažnai (80–99%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Labai dažnai (80–99%) | 1 ligoje |
| PRRT2proline rich transmembrane protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Labai dažnai (80–99%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Labai dažnai (80–99%) | 1 ligoje |
| ROGDIrogdi atypical leucine zipper | Labai dažnai (80–99%) | 1 ligoje |
| SAMD12sterile alpha motif domain containing 12 | Labai dažnai (80–99%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| SKISKI proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| SLC12A6solute carrier family 12 member 6 | Labai dažnai (80–99%) | 1 ligoje |
| SLC13A5solute carrier family 13 member 5 | Labai dažnai (80–99%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Labai dažnai (80–99%) | 3 ligose |
| SLC6A19solute carrier family 6 member 19 | Labai dažnai (80–99%) | 1 ligoje |
| SPENspen family transcriptional repressor | Labai dažnai (80–99%) | 1 ligoje |
| SYT1synaptotagmin 1 | Labai dažnai (80–99%) | 2 ligose |
| TBC1D24TBC1 domain family member 24 | Labai dažnai (80–99%) | 1 ligoje |
| TBK1TANK binding kinase 1 | Labai dažnai (80–99%) | 2 ligose |
| TICAM1TIR domain containing adaptor molecule 1 | Labai dažnai (80–99%) | 1 ligoje |
| TIMM50translocase of inner mitochondrial membrane 50 | Labai dažnai (80–99%) | 1 ligoje |
| TLR3toll like receptor 3 | Labai dažnai (80–99%) | 2 ligose |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Labai dažnai (80–99%) | 1 ligoje |
| TRAF3TNF receptor associated factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Labai dažnai (80–99%) | 1 ligoje |
| UNC93B1unc-93B1 regulator of TLR signaling | 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 |
| YEATS2YEATS domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Labai dažnai (80–99%) | 1 ligoje |
| ZNHIT3zinc finger HIT-type containing 3 | Labai dažnai (80–99%) | 1 ligoje |
| ABCA5ATP binding cassette subfamily A member 5 | Dažnai (30–79%) | 1 ligoje |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Dažnai (30–79%) | 1 ligoje |
| AHSGalpha 2-HS glycoprotein | Dažnai (30–79%) | 1 ligoje |
| ANKRD17ankyrin repeat domain 17 | Dažnai (30–79%) | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Dažnai (30–79%) | 1 ligoje |
| ARG1arginase 1 | Dažnai (30–79%) | 1 ligoje |
| ARXaristaless related homeobox | Dažnai (30–79%) | 3 ligose |
| ASLargininosuccinate lyase | Dažnai (30–79%) | 1 ligoje |
| ATP10AATPase phospholipid transporting 10A (putative) | Dažnai (30–79%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 1 ligoje |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Dažnai (30–79%) | 2 ligose |
| CASKcalcium/calmodulin dependent serine protein kinase | Dažnai (30–79%) | 1 ligoje |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Dažnai (30–79%) | 1 ligoje |
| CHD2chromodomain helicase DNA binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| CLCN6Cl-/H+ antiporter 6 | Dažnai (30–79%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Dažnai (30–79%) | 3 ligose |
| DMXL2Dmx like 2 | Dažnai (30–79%) | 1 ligoje |
| DNM1dynamin 1 | Dažnai (30–79%) | 1 ligoje |
| DNM1Ldynamin 1L | Dažnai (30–79%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| FOXG1forkhead box G1 | Dažnai (30–79%) | 1 ligoje |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Dažnai (30–79%) | 1 ligoje |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Dažnai (30–79%) | 1 ligoje |
| GFM1G elongation factor mitochondrial 1 | Dažnai (30–79%) | 1 ligoje |
| GNAO1G protein subunit alpha o1 | Dažnai (30–79%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Dažnai (30–79%) | 1 ligoje |
| GON7GON7 subunit of KEOPS complex | Dažnai (30–79%) | 1 ligoje |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Dažnai (30–79%) | 1 ligoje |
| GRM7glutamate metabotropic receptor 7 | Dažnai (30–79%) | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Dažnai (30–79%) | 1 ligoje |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Dažnai (30–79%) | 2 ligose |
| ITGB6integrin subunit beta 6 | Dažnai (30–79%) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Dažnai (30–79%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Dažnai (30–79%) | 1 ligoje |
| LAGE3L antigen family member 3 | Dažnai (30–79%) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Dažnai (30–79%) | 1 ligoje |
| LSSlanosterol synthase | Dažnai (30–79%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Dažnai (30–79%) | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Dažnai (30–79%) | 1 ligoje |
| MAP2K2mitogen-activated protein kinase kinase 2 | Dažnai (30–79%) | 1 ligoje |
| MAPK10mitogen-activated protein kinase 10 | Dažnai (30–79%) | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Dažnai (30–79%) | 1 ligoje |
| MCOLN1mucolipin TRP cation channel 1 | Dažnai (30–79%) | 1 ligoje |
| MFFmitochondrial fission factor | Dažnai (30–79%) | 1 ligoje |
| MSL2MSL complex subunit 2 | Dažnai (30–79%) | 1 ligoje |
| NAXDNAD(P)HX dehydratase | Dažnai (30–79%) | 1 ligoje |
| NEU1neuraminidase 1 | Dažnai (30–79%) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Dažnai (30–79%) | 1 ligoje |
| NGLY1N-glycanase 1 | Dažnai (30–79%) | 1 ligoje |
| NLGN3neuroligin 3 | Dažnai (30–79%) | 2 ligose |
| NLGN4Xneuroligin 4 X-linked | Dažnai (30–79%) | 2 ligose |
| NOTCH2NLCnotch 2 N-terminal like C | Dažnai (30–79%) | 1 ligoje |
| NOTCH3notch receptor 3 | Dažnai (30–79%) | 1 ligoje |
| NTNG2netrin G2 | Dažnai (30–79%) | 1 ligoje |
| NUP107nucleoporin 107 | Dažnai (30–79%) | 1 ligoje |
| NUP133nucleoporin 133 | Dažnai (30–79%) | 1 ligoje |
| NUP188nucleoporin 188 | Dažnai (30–79%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Dažnai (30–79%) | 1 ligoje |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Dažnai (30–79%) | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Dažnai (30–79%) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Dažnai (30–79%) | 1 ligoje |
| PRUNE1prune exopolyphosphatase 1 | Dažnai (30–79%) | 1 ligoje |
| PTRH2peptidyl-tRNA hydrolase 2 | Dažnai (30–79%) | 1 ligoje |
| PURApurine rich element binding protein A | Dažnai (30–79%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 4 ligose |
| RCC1regulator of chromosome condensation 1 | Dažnai (30–79%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Dažnai (30–79%) | 2 ligose |
| SATB1SATB homeobox 1 | Dažnai (30–79%) | 2 ligose |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Dažnai (30–79%) | 2 ligose |
| SIK1salt inducible kinase 1 | Dažnai (30–79%) | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Dažnai (30–79%) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Dažnai (30–79%) | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Dažnai (30–79%) | 1 ligoje |
| SNF8SNF8 subunit of ESCRT-II | Dažnai (30–79%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Dažnai (30–79%) | 2 ligose |
| SPTBN1spectrin beta, non-erythrocytic 1 | Dažnai (30–79%) | 1 ligoje |
| TET3tet methylcytosine dioxygenase 3 | Dažnai (30–79%) | 1 ligoje |
| TP53RKTP53 regulating kinase | Dažnai (30–79%) | 1 ligoje |
| TPRKBTP53RK binding protein | Dažnai (30–79%) | 1 ligoje |
| TRIM8tripartite motif containing 8 | Dažnai (30–79%) | 1 ligoje |
| UBTFupstream binding transcription factor | Dažnai (30–79%) | 1 ligoje |
| WDR73WD repeat domain 73 | Dažnai (30–79%) | 1 ligoje |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Dažnai (30–79%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Dažnai (30–79%) | 2 ligose |
| ANKRD11ankyrin repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| ARHGAP31Rho GTPase activating protein 31 | Kartais (5–29%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Kartais (5–29%) | 1 ligoje |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Kartais (5–29%) | 1 ligoje |
| CBScystathionine beta-synthase | Kartais (5–29%) | 1 ligoje |
| CUL4Bcullin 4B | Kartais (5–29%) | 1 ligoje |
| DDCdopa decarboxylase | Kartais (5–29%) | 1 ligoje |
| DLL4delta like canonical Notch ligand 4 | Kartais (5–29%) | 1 ligoje |
| DOCK6dedicator of cytokinesis 6 | Kartais (5–29%) | 1 ligoje |
| EMC1ER membrane protein complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Kartais (5–29%) | 1 ligoje |
| FDXRferredoxin reductase | Kartais (5–29%) | 1 ligoje |
| FOXP1forkhead box P1 | Kartais (5–29%) | 1 ligoje |
| GALCgalactosylceramidase | Kartais (5–29%) | 2 ligose |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Kartais (5–29%) | 1 ligoje |
| KDM6Alysine demethylase 6A | Kartais (5–29%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Kartais (5–29%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Kartais (5–29%) | 1 ligoje |
| NECTIN1nectin cell adhesion molecule 1 | Kartais (5–29%) | 1 ligoje |
| NLRP3NLR family pyrin domain containing 3 | Kartais (5–29%) | 1 ligoje |
| NOTCH1notch receptor 1 | Kartais (5–29%) | 1 ligoje |
| PLCH1phospholipase C eta 1 | Kartais (5–29%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Kartais (5–29%) | 1 ligoje |
| PRNPprion protein (Kanno blood group) | Kartais (5–29%) | 1 ligoje |
| PSAPprosaposin | Kartais (5–29%) | 1 ligoje |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Kartais (5–29%) | 1 ligoje |
| RELREL proto-oncogene, NF-kB subunit | Kartais (5–29%) | 1 ligoje |
| SLC44A1solute carrier family 44 member 1 | Kartais (5–29%) | 1 ligoje |
| SMSspermine synthase | Kartais (5–29%) | 1 ligoje |
| WDR62WD repeat domain 62 | Kartais (5–29%) | 1 ligoje |
| XPO1exportin 1 | Kartais (5–29%) | 1 ligoje |
| ANTXR1ANTXR cell adhesion molecule 1 | Retai (1–4 %) | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Retai (1–4 %) | 2 ligose |
| RUSC2RUN and SH3 domain containing 2 | Retai (1–4 %) | 1 ligoje |
| TRAPPC11trafficking protein particle complex subunit 11 | Retai (1–4 %) | 1 ligoje |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Neužfiksuota | 1 ligoje |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Neužfiksuota | 1 ligoje |
| APOL2apolipoprotein L2 | Neužfiksuota | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Neužfiksuota | 1 ligoje |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Neužfiksuota | 1 ligoje |
| CHI3L1chitinase 3 like 1 | Neužfiksuota | 1 ligoje |
| CLN8CLN8 transmembrane ER and ERGIC protein | Neužfiksuota | 2 ligose |
| DAOAD-amino acid oxidase activator | Neužfiksuota | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Neužfiksuota | 1 ligoje |
| DISC2disrupted in schizophrenia 2 | Neužfiksuota | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Neužfiksuota | 1 ligoje |
| DRD3dopamine receptor D3 | Neužfiksuota | 1 ligoje |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| FGF12fibroblast growth factor 12 | Neužfiksuota | 1 ligoje |
| FLCNfolliculin | Neužfiksuota | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Neužfiksuota | 1 ligoje |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Neužfiksuota | 1 ligoje |
| HTR2A5-hydroxytryptamine receptor 2A | Neužfiksuota | 1 ligoje |
| IREB2iron responsive element binding protein 2 | Neužfiksuota | 1 ligoje |
| LAMC3laminin subunit gamma 3 | Neužfiksuota | 1 ligoje |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| MFSD8major facilitator superfamily domain containing 8 | Neužfiksuota | 1 ligoje |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Neužfiksuota | 1 ligoje |
| MTHFRmethylenetetrahydrofolate reductase | Neužfiksuota | 1 ligoje |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Neužfiksuota | 1 ligoje |
| PCK1phosphoenolpyruvate carboxykinase 1 | Neužfiksuota | 1 ligoje |
| PHF6PHD finger protein 6 | Neužfiksuota | 1 ligoje |
| PPT1palmitoyl-protein thioesterase 1 | Neužfiksuota | 1 ligoje |
| PRODHproline dehydrogenase 1 | Neužfiksuota | 1 ligoje |
| RTN4Rreticulon 4 receptor | Neužfiksuota | 1 ligoje |
| SLC1A3solute carrier family 1 member 3 | Neužfiksuota | 1 ligoje |
| SNIP1Smad nuclear interacting protein 1 | Neužfiksuota | 1 ligoje |
| SYN2synapsin II | Neužfiksuota | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Neužfiksuota | 1 ligoje |
| SZT2SZT2 subunit of KICSTOR complex | Neužfiksuota | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Neužfiksuota | 2 ligose |
| TYROBPtransmembrane immune signaling adaptor TYROBP | 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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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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