Træk
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.
Resumé
- Også kaldet
- Abnormal EEG, Abnormal electroencephalogram, EEG abnormalities, Electroencephalogram abnormal, Electroencephalogram abnormalities
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test308 gener knyttet til EEG abnormality
Ændringer i disse gener forårsager sjældne tilstande, hvor EEG abnormality ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Altid | I 2 tilstande |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altid | I 1 tilstand |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Altid | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Altid | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Altid | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Altid | I 1 tilstand |
| COG3component of oligomeric golgi complex 3 | Altid | I 1 tilstand |
| COX16cytochrome c oxidase assembly factor COX16 | Altid | I 1 tilstand |
| CTNNA2catenin alpha 2 | Altid | I 1 tilstand |
| CUX2cut like homeobox 2 | Altid | I 2 tilstande |
| DEAF1DEAF1 transcription factor | Altid | I 1 tilstand |
| DENND5ADENN domain containing 5A | Altid | I 1 tilstand |
| DHPSdeoxyhypusine synthase | Altid | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altid | I 1 tilstand |
| FAM177A1family with sequence similarity 177 member A1 | Altid | I 1 tilstand |
| GNB2G protein subunit beta 2 | Altid | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Altid | I 3 tilstande |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Altid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Altid | I 1 tilstand |
| MED23mediator complex subunit 23 | Altid | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Altid | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PDE2Aphosphodiesterase 2A | Altid | I 1 tilstand |
| RTTNrotatin | Altid | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Altid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Altid | I 2 tilstande |
| SPTBN4spectrin beta, non-erythrocytic 4 | Altid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Altid | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Altid | I 1 tilstand |
| TRIT1tRNA isopentenyltransferase 1 | Altid | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Altid | I 5 tilstande |
| VAMP2vesicle associated membrane protein 2 | Altid | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altid | I 2 tilstande |
| WWOXWW domain containing oxidoreductase | Altid | I 2 tilstande |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Altid | I 1 tilstand |
| ABAT4-aminobutyrate aminotransferase | Meget ofte (80–99 %) | I 1 tilstand |
Vis 268 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACOX1acyl-CoA oxidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ADRA2Badrenoceptor alpha 2B | Meget ofte (80–99 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Meget ofte (80–99 %) | I 2 tilstande |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Meget ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Meget ofte (80–99 %) | I 4 tilstande |
| CASZ1castor zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Meget ofte (80–99 %) | I 2 tilstande |
| CLTRNcollectrin, amino acid transport regulator | Meget ofte (80–99 %) | I 1 tilstand |
| CNTN2contactin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Meget ofte (80–99 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CTNND2catenin delta 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Meget ofte (80–99 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FKRPfukutin related protein | Meget ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Meget ofte (80–99 %) | I 2 tilstande |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Meget ofte (80–99 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Meget ofte (80–99 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Meget ofte (80–99 %) | I 2 tilstande |
| HIC1HIC ZBTB transcriptional repressor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Meget ofte (80–99 %) | I 2 tilstande |
| MARCHF6membrane associated ring-CH-type finger 6 | Meget ofte (80–99 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Meget ofte (80–99 %) | I 5 tilstande |
| MMP23Bmatrix metallopeptidase 23B | Meget ofte (80–99 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Meget ofte (80–99 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Meget ofte (80–99 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Meget ofte (80–99 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Meget ofte (80–99 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Meget ofte (80–99 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Meget ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NTNG1netrin G1 | Meget ofte (80–99 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Meget ofte (80–99 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PDPNpodoplanin | Meget ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX11Bperoxisomal biogenesis factor 11 beta | Meget ofte (80–99 %) | I 2 tilstande |
| PEX12peroxisomal biogenesis factor 12 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX13peroxisomal biogenesis factor 13 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX14peroxisomal biogenesis factor 14 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX16peroxisomal biogenesis factor 16 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX19peroxisomal biogenesis factor 19 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX2peroxisomal biogenesis factor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX26peroxisomal biogenesis factor 26 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX3peroxisomal biogenesis factor 3 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX5peroxisomal biogenesis factor 5 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX6peroxisomal biogenesis factor 6 | Meget ofte (80–99 %) | I 2 tilstande |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Meget ofte (80–99 %) | I 2 tilstande |
| POMT1protein O-mannosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Meget ofte (80–99 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Meget ofte (80–99 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Meget ofte (80–99 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Meget ofte (80–99 %) | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Meget ofte (80–99 %) | I 1 tilstand |
| SAMD12sterile alpha motif domain containing 12 | Meget ofte (80–99 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SKISKI proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Meget ofte (80–99 %) | I 3 tilstande |
| SLC6A19solute carrier family 6 member 19 | Meget ofte (80–99 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Meget ofte (80–99 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TBC1D24TBC1 domain family member 24 | Meget ofte (80–99 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TICAM1TIR domain containing adaptor molecule 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Meget ofte (80–99 %) | I 1 tilstand |
| TLR3toll like receptor 3 | Meget ofte (80–99 %) | I 2 tilstande |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Meget ofte (80–99 %) | I 1 tilstand |
| TRAF3TNF receptor associated factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Meget ofte (80–99 %) | I 1 tilstand |
| UNC93B1unc-93B1 regulator of TLR signaling | Meget ofte (80–99 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Meget ofte (80–99 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Meget ofte (80–99 %) | I 1 tilstand |
| YEATS2YEATS domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Meget ofte (80–99 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ABCA5ATP binding cassette subfamily A member 5 | Ofte (30–79 %) | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| AHSGalpha 2-HS glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| ANKRD17ankyrin repeat domain 17 | Ofte (30–79 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ofte (30–79 %) | I 1 tilstand |
| ARG1arginase 1 | Ofte (30–79 %) | I 1 tilstand |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 3 tilstande |
| ASLargininosuccinate lyase | Ofte (30–79 %) | I 1 tilstand |
| ATP10AATPase phospholipid transporting 10A (putative) | Ofte (30–79 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ofte (30–79 %) | I 2 tilstande |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Ofte (30–79 %) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CLCN6Cl-/H+ antiporter 6 | Ofte (30–79 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 3 tilstande |
| DMXL2Dmx like 2 | Ofte (30–79 %) | I 1 tilstand |
| DNM1dynamin 1 | Ofte (30–79 %) | I 1 tilstand |
| DNM1Ldynamin 1L | Ofte (30–79 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Ofte (30–79 %) | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Ofte (30–79 %) | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Ofte (30–79 %) | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Ofte (30–79 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Ofte (30–79 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| GON7GON7 subunit of KEOPS complex | Ofte (30–79 %) | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Ofte (30–79 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Ofte (30–79 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Ofte (30–79 %) | I 2 tilstande |
| ITGB6integrin subunit beta 6 | Ofte (30–79 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ofte (30–79 %) | I 1 tilstand |
| LAGE3L antigen family member 3 | Ofte (30–79 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Ofte (30–79 %) | I 1 tilstand |
| LSSlanosterol synthase | Ofte (30–79 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| MAPK10mitogen-activated protein kinase 10 | Ofte (30–79 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Ofte (30–79 %) | I 1 tilstand |
| MFFmitochondrial fission factor | Ofte (30–79 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| NAXDNAD(P)HX dehydratase | Ofte (30–79 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Ofte (30–79 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Ofte (30–79 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 1 tilstand |
| NLGN3neuroligin 3 | Ofte (30–79 %) | I 2 tilstande |
| NLGN4Xneuroligin 4 X-linked | Ofte (30–79 %) | I 2 tilstande |
| NOTCH2NLCnotch 2 N-terminal like C | Ofte (30–79 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| NTNG2netrin G2 | Ofte (30–79 %) | I 1 tilstand |
| NUP107nucleoporin 107 | Ofte (30–79 %) | I 1 tilstand |
| NUP133nucleoporin 133 | Ofte (30–79 %) | I 1 tilstand |
| NUP188nucleoporin 188 | Ofte (30–79 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ofte (30–79 %) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ofte (30–79 %) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Ofte (30–79 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Ofte (30–79 %) | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Ofte (30–79 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 4 tilstande |
| RCC1regulator of chromosome condensation 1 | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 2 tilstande |
| SATB1SATB homeobox 1 | Ofte (30–79 %) | I 2 tilstande |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| SIK1salt inducible kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Ofte (30–79 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Ofte (30–79 %) | I 1 tilstand |
| SNF8SNF8 subunit of ESCRT-II | Ofte (30–79 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ofte (30–79 %) | I 2 tilstande |
| SPTBN1spectrin beta, non-erythrocytic 1 | Ofte (30–79 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Ofte (30–79 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Ofte (30–79 %) | I 1 tilstand |
| TPRKBTP53RK binding protein | Ofte (30–79 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Ofte (30–79 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Ofte (30–79 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 1 tilstand |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Ofte (30–79 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 2 tilstande |
| ANKRD11ankyrin repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Nogle gange (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Nogle gange (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Nogle gange (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Nogle gange (5–29 %) | I 1 tilstand |
| CUL4Bcullin 4B | Nogle gange (5–29 %) | I 1 tilstand |
| DDCdopa decarboxylase | Nogle gange (5–29 %) | I 1 tilstand |
| DLL4delta like canonical Notch ligand 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Nogle gange (5–29 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Nogle gange (5–29 %) | I 1 tilstand |
| FDXRferredoxin reductase | Nogle gange (5–29 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Nogle gange (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Nogle gange (5–29 %) | I 2 tilstande |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Nogle gange (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Nogle gange (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Nogle gange (5–29 %) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Nogle gange (5–29 %) | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Nogle gange (5–29 %) | I 1 tilstand |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Nogle gange (5–29 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SLC44A1solute carrier family 44 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Nogle gange (5–29 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Nogle gange (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Sjældent (1–4%) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Sjældent (1–4%) | I 2 tilstande |
| RUSC2RUN and SH3 domain containing 2 | Sjældent (1–4%) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Sjældent (1–4%) | I 1 tilstand |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Ikke registreret | I 1 tilstand |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Ikke registreret | I 1 tilstand |
| APOL2apolipoprotein L2 | Ikke registreret | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ikke registreret | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registreret | I 1 tilstand |
| CHI3L1chitinase 3 like 1 | Ikke registreret | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Ikke registreret | I 2 tilstande |
| DAOAD-amino acid oxidase activator | Ikke registreret | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ikke registreret | I 1 tilstand |
| DISC2disrupted in schizophrenia 2 | Ikke registreret | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Ikke registreret | I 1 tilstand |
| DRD3dopamine receptor D3 | Ikke registreret | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Ikke registreret | I 1 tilstand |
| FLCNfolliculin | Ikke registreret | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ikke registreret | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ikke registreret | I 1 tilstand |
| HTR2A5-hydroxytryptamine receptor 2A | Ikke registreret | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Ikke registreret | I 1 tilstand |
| LAMC3laminin subunit gamma 3 | Ikke registreret | I 1 tilstand |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ikke registreret | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ikke registreret | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Ikke registreret | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Ikke registreret | I 1 tilstand |
| PCK1phosphoenolpyruvate carboxykinase 1 | Ikke registreret | I 1 tilstand |
| PHF6PHD finger protein 6 | Ikke registreret | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registreret | I 1 tilstand |
| PRODHproline dehydrogenase 1 | Ikke registreret | I 1 tilstand |
| RTN4Rreticulon 4 receptor | Ikke registreret | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Ikke registreret | I 1 tilstand |
| SNIP1Smad nuclear interacting protein 1 | Ikke registreret | I 1 tilstand |
| SYN2synapsin II | Ikke registreret | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ikke registreret | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Ikke registreret | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Ikke registreret | I 2 tilstande |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Snævrere træk
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger