Tunnus
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.
Kokkuvõte
- Teised nimetused
- Abnormal EEG, Abnormal electroencephalogram, EEG abnormalities, Electroencephalogram abnormal, Electroencephalogram abnormalities
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
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Telli oma Genome Test308 geeni on seotud tunnusega EEG abnormality
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb EEG abnormality. 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 |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Alati | Esineb 2 haiguses |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alati | Esineb 1 haiguses |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Alati | Esineb 1 haiguses |
| CCDC47coiled-coil domain containing 47 | Alati | Esineb 1 haiguses |
| CEP85Lcentrosomal protein 85L | Alati | Esineb 1 haiguses |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Alati | Esineb 1 haiguses |
| COG3component of oligomeric golgi complex 3 | Alati | Esineb 1 haiguses |
| COX16cytochrome c oxidase assembly factor COX16 | Alati | Esineb 1 haiguses |
| CTNNA2catenin alpha 2 | Alati | Esineb 1 haiguses |
| CUX2cut like homeobox 2 | Alati | Esineb 2 haiguses |
| DEAF1DEAF1 transcription factor | Alati | Esineb 1 haiguses |
| DENND5ADENN domain containing 5A | Alati | Esineb 1 haiguses |
| DHPSdeoxyhypusine synthase | Alati | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Alati | Esineb 1 haiguses |
| FAM177A1family with sequence similarity 177 member A1 | Alati | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Alati | Esineb 1 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alati | Esineb 3 haiguses |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Alati | Esineb 1 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alati | Esineb 1 haiguses |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Alati | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Alati | Esineb 1 haiguses |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Alati | Esineb 1 haiguses |
| MED23mediator complex subunit 23 | Alati | Esineb 1 haiguses |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Alati | Esineb 1 haiguses |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alati | Esineb 1 haiguses |
| PDE2Aphosphodiesterase 2A | Alati | Esineb 1 haiguses |
| RTTNrotatin | Alati | Esineb 1 haiguses |
| SLC1A2solute carrier family 1 member 2 | Alati | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Alati | Esineb 2 haiguses |
| SPTBN4spectrin beta, non-erythrocytic 4 | Alati | Esineb 1 haiguses |
| TMEM63Btransmembrane protein 63B | Alati | Esineb 1 haiguses |
| TOP2BDNA topoisomerase II beta | Alati | Esineb 1 haiguses |
| TRIT1tRNA isopentenyltransferase 1 | Alati | Esineb 1 haiguses |
| UBE3Aubiquitin protein ligase E3A | Alati | Esineb 5 haiguses |
| VAMP2vesicle associated membrane protein 2 | Alati | Esineb 1 haiguses |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alati | Esineb 2 haiguses |
| WWOXWW domain containing oxidoreductase | Alati | Esineb 2 haiguses |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Alati | Esineb 1 haiguses |
| ABAT4-aminobutyrate aminotransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 268 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ACOX1acyl-CoA oxidase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADRA2Badrenoceptor alpha 2B | Väga sageli (80–99%) | Esineb 1 haiguses |
| AFG2AAAA ATPase AFG2A | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Väga sageli (80–99%) | Esineb 4 haiguses |
| CASZ1castor zinc finger 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDKL5cyclin dependent kinase like 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CLTRNcollectrin, amino acid transport regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNTN2contactin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNTNAP2contactin associated protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Väga sageli (80–99%) | Esineb 1 haiguses |
| CTBP1C-terminal binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CTNND2catenin delta 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DDB2damage specific DNA binding protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Väga sageli (80–99%) | Esineb 1 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC5ERCC excision repair 5, endonuclease | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFRL1fibroblast growth factor receptor like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKTNfukutin | Väga sageli (80–99%) | Esineb 2 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Väga sageli (80–99%) | Esineb 1 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HIC1HIC ZBTB transcriptional repressor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 2 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LUZP1leucine zipper protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MADDMAP kinase activating death domain | Väga sageli (80–99%) | Esineb 2 haiguses |
| MARCHF6membrane associated ring-CH-type finger 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Väga sageli (80–99%) | Esineb 5 haiguses |
| MMP23Bmatrix metallopeptidase 23B | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Väga sageli (80–99%) | Esineb 1 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 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Väga sageli (80–99%) | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NTNG1netrin G1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| OCA2OCA2 melanosomal transmembrane protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDPNpodoplanin | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Väga sageli (80–99%) | Esineb 2 haiguses |
| POMT1protein O-mannosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMT2protein O-mannosyltransferase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PPFIA3PPFI scaffold protein A3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRDM16PR/SET domain 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRKCZprotein kinase C zeta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRRT2proline rich transmembrane protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Väga sageli (80–99%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Väga sageli (80–99%) | Esineb 1 haiguses |
| ROGDIrogdi atypical leucine zipper | Väga sageli (80–99%) | Esineb 1 haiguses |
| SAMD12sterile alpha motif domain containing 12 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SKISKI proto-oncogene | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC12A6solute carrier family 12 member 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC13A5solute carrier family 13 member 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SLC6A19solute carrier family 6 member 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPENspen family transcriptional repressor | Väga sageli (80–99%) | Esineb 1 haiguses |
| SYT1synaptotagmin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBC1D24TBC1 domain family member 24 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBK1TANK binding kinase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TICAM1TIR domain containing adaptor molecule 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TIMM50translocase of inner mitochondrial membrane 50 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TLR3toll like receptor 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRAF3TNF receptor associated factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UBE4Bubiquitination factor E4B | Väga sageli (80–99%) | Esineb 1 haiguses |
| UNC93B1unc-93B1 regulator of TLR signaling | Väga sageli (80–99%) | Esineb 1 haiguses |
| XPAXPA, DNA damage recognition and repair factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| YEATS2YEATS domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNHIT3zinc finger HIT-type containing 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCA5ATP binding cassette subfamily A member 5 | Sageli (30–79%) | Esineb 1 haiguses |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| AHSGalpha 2-HS glycoprotein | Sageli (30–79%) | Esineb 1 haiguses |
| ANKRD17ankyrin repeat domain 17 | Sageli (30–79%) | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ARG1arginase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ARXaristaless related homeobox | Sageli (30–79%) | Esineb 3 haiguses |
| ASLargininosuccinate lyase | Sageli (30–79%) | Esineb 1 haiguses |
| ATP10AATPase phospholipid transporting 10A (putative) | Sageli (30–79%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sageli (30–79%) | Esineb 2 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Sageli (30–79%) | Esineb 1 haiguses |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Sageli (30–79%) | Esineb 1 haiguses |
| CHD2chromodomain helicase DNA binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CLCN6Cl-/H+ antiporter 6 | Sageli (30–79%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Sageli (30–79%) | Esineb 3 haiguses |
| DMXL2Dmx like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DNM1dynamin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Sageli (30–79%) | Esineb 1 haiguses |
| DPYDdihydropyrimidine dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| FOXG1forkhead box G1 | Sageli (30–79%) | Esineb 1 haiguses |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Sageli (30–79%) | Esineb 1 haiguses |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Sageli (30–79%) | Esineb 1 haiguses |
| GFM1G elongation factor mitochondrial 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GNAO1G protein subunit alpha o1 | Sageli (30–79%) | Esineb 1 haiguses |
| GNB1G protein subunit beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GON7GON7 subunit of KEOPS complex | Sageli (30–79%) | Esineb 1 haiguses |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Sageli (30–79%) | Esineb 1 haiguses |
| GRM7glutamate metabotropic receptor 7 | Sageli (30–79%) | Esineb 1 haiguses |
| GTF3C3general transcription factor IIIC subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sageli (30–79%) | Esineb 2 haiguses |
| ITGB6integrin subunit beta 6 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LAGE3L antigen family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LSSlanosterol synthase | Sageli (30–79%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MAPK10mitogen-activated protein kinase 10 | Sageli (30–79%) | Esineb 1 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MCOLN1mucolipin TRP cation channel 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MFFmitochondrial fission factor | Sageli (30–79%) | Esineb 1 haiguses |
| MSL2MSL complex subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NAXDNAD(P)HX dehydratase | Sageli (30–79%) | Esineb 1 haiguses |
| NEU1neuraminidase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NEUROD2neuronal differentiation 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NLGN3neuroligin 3 | Sageli (30–79%) | Esineb 2 haiguses |
| NLGN4Xneuroligin 4 X-linked | Sageli (30–79%) | Esineb 2 haiguses |
| NOTCH2NLCnotch 2 N-terminal like C | Sageli (30–79%) | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NTNG2netrin G2 | Sageli (30–79%) | Esineb 1 haiguses |
| NUP107nucleoporin 107 | Sageli (30–79%) | Esineb 1 haiguses |
| NUP133nucleoporin 133 | Sageli (30–79%) | Esineb 1 haiguses |
| NUP188nucleoporin 188 | Sageli (30–79%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| OSGEPO-sialoglycoprotein endopeptidase | Sageli (30–79%) | Esineb 1 haiguses |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sageli (30–79%) | Esineb 1 haiguses |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sageli (30–79%) | Esineb 1 haiguses |
| PNKPpolynucleotide kinase 3'-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| PRUNE1prune exopolyphosphatase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PTRH2peptidyl-tRNA hydrolase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PURApurine rich element binding protein A | Sageli (30–79%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Sageli (30–79%) | Esineb 4 haiguses |
| RCC1regulator of chromosome condensation 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Sageli (30–79%) | Esineb 2 haiguses |
| SATB1SATB homeobox 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sageli (30–79%) | Esineb 2 haiguses |
| SIK1salt inducible kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC25A22solute carrier family 25 member 22 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC32A1solute carrier family 32 member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC9A6solute carrier family 9 member A6 | Sageli (30–79%) | Esineb 1 haiguses |
| SNF8SNF8 subunit of ESCRT-II | Sageli (30–79%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Sageli (30–79%) | Esineb 2 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TET3tet methylcytosine dioxygenase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TP53RKTP53 regulating kinase | Sageli (30–79%) | Esineb 1 haiguses |
| TPRKBTP53RK binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| TRIM8tripartite motif containing 8 | Sageli (30–79%) | Esineb 1 haiguses |
| UBTFupstream binding transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| WDR73WD repeat domain 73 | Sageli (30–79%) | Esineb 1 haiguses |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Sageli (30–79%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Sageli (30–79%) | Esineb 2 haiguses |
| ANKRD11ankyrin repeat domain 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARHGAP31Rho GTPase activating protein 31 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCL11ABCL11 transcription factor A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| CBScystathionine beta-synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CUL4Bcullin 4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDCdopa decarboxylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLL4delta like canonical Notch ligand 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOCK6dedicator of cytokinesis 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EMC1ER membrane protein complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FDXRferredoxin reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXP1forkhead box P1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALCgalactosylceramidase | Mõnikord (5–29%) | Esineb 2 haiguses |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED13Lmediator complex subunit 13L | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDPnorrin cystine knot growth factor NDP | Mõnikord (5–29%) | Esineb 1 haiguses |
| NECTIN1nectin cell adhesion molecule 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NLRP3NLR family pyrin domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH1notch receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLCH1phospholipase C eta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRNPprion protein (Kanno blood group) | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSAPprosaposin | Mõnikord (5–29%) | Esineb 1 haiguses |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Mõnikord (5–29%) | Esineb 1 haiguses |
| RELREL proto-oncogene, NF-kB subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC44A1solute carrier family 44 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMSspermine synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR62WD repeat domain 62 | Mõnikord (5–29%) | Esineb 1 haiguses |
| XPO1exportin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANTXR1ANTXR cell adhesion molecule 1 | Harva (1–4%) | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Harva (1–4%) | Esineb 2 haiguses |
| RUSC2RUN and SH3 domain containing 2 | Harva (1–4%) | Esineb 1 haiguses |
| TRAPPC11trafficking protein particle complex subunit 11 | Harva (1–4%) | Esineb 1 haiguses |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Pole registreeritud | Esineb 1 haiguses |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Pole registreeritud | Esineb 1 haiguses |
| APOL2apolipoprotein L2 | Pole registreeritud | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Pole registreeritud | Esineb 1 haiguses |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Pole registreeritud | Esineb 1 haiguses |
| CHI3L1chitinase 3 like 1 | Pole registreeritud | Esineb 1 haiguses |
| CLN8CLN8 transmembrane ER and ERGIC protein | Pole registreeritud | Esineb 2 haiguses |
| DAOAD-amino acid oxidase activator | Pole registreeritud | Esineb 1 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Pole registreeritud | Esineb 1 haiguses |
| DISC2disrupted in schizophrenia 2 | Pole registreeritud | Esineb 1 haiguses |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Pole registreeritud | Esineb 1 haiguses |
| DRD3dopamine receptor D3 | Pole registreeritud | Esineb 1 haiguses |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| FGF12fibroblast growth factor 12 | Pole registreeritud | Esineb 1 haiguses |
| FLCNfolliculin | Pole registreeritud | Esineb 1 haiguses |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Pole registreeritud | Esineb 1 haiguses |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Pole registreeritud | Esineb 1 haiguses |
| HTR2A5-hydroxytryptamine receptor 2A | Pole registreeritud | Esineb 1 haiguses |
| IREB2iron responsive element binding protein 2 | Pole registreeritud | Esineb 1 haiguses |
| LAMC3laminin subunit gamma 3 | Pole registreeritud | Esineb 1 haiguses |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| MFSD8major facilitator superfamily domain containing 8 | Pole registreeritud | Esineb 1 haiguses |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Pole registreeritud | Esineb 1 haiguses |
| MTHFRmethylenetetrahydrofolate reductase | Pole registreeritud | Esineb 1 haiguses |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Pole registreeritud | Esineb 1 haiguses |
| PCK1phosphoenolpyruvate carboxykinase 1 | Pole registreeritud | Esineb 1 haiguses |
| PHF6PHD finger protein 6 | Pole registreeritud | Esineb 1 haiguses |
| PPT1palmitoyl-protein thioesterase 1 | Pole registreeritud | Esineb 1 haiguses |
| PRODHproline dehydrogenase 1 | Pole registreeritud | Esineb 1 haiguses |
| RTN4Rreticulon 4 receptor | Pole registreeritud | Esineb 1 haiguses |
| SLC1A3solute carrier family 1 member 3 | Pole registreeritud | Esineb 1 haiguses |
| SNIP1Smad nuclear interacting protein 1 | Pole registreeritud | Esineb 1 haiguses |
| SYN2synapsin II | Pole registreeritud | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Pole registreeritud | Esineb 1 haiguses |
| SZT2SZT2 subunit of KICSTOR complex | Pole registreeritud | Esineb 1 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Pole registreeritud | Esineb 2 haiguses |
| TYROBPtransmembrane immune signaling adaptor TYROBP | 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 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast