Kenmerk
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.
Samenvatting
- Ook bekend als
- Abnormal EEG, Abnormal electroencephalogram, EEG abnormalities, Electroencephalogram abnormal, Electroencephalogram abnormalities
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij EEG abnormality voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Altijd | In 2 aandoeningen |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Altijd | In 1 aandoening |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Altijd | In 1 aandoening |
| CCDC47coiled-coil domain containing 47 | Altijd | In 1 aandoening |
| CEP85Lcentrosomal protein 85L | Altijd | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Altijd | In 1 aandoening |
| COG3component of oligomeric golgi complex 3 | Altijd | In 1 aandoening |
| COX16cytochrome c oxidase assembly factor COX16 | Altijd | In 1 aandoening |
| CTNNA2catenin alpha 2 | Altijd | In 1 aandoening |
| CUX2cut like homeobox 2 | Altijd | In 2 aandoeningen |
| DEAF1DEAF1 transcription factor | Altijd | In 1 aandoening |
| DENND5ADENN domain containing 5A | Altijd | In 1 aandoening |
| DHPSdeoxyhypusine synthase | Altijd | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altijd | In 1 aandoening |
| FAM177A1family with sequence similarity 177 member A1 | Altijd | In 1 aandoening |
| GNB2G protein subunit beta 2 | Altijd | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Altijd | In 3 aandoeningen |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Altijd | In 1 aandoening |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Altijd | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Altijd | In 1 aandoening |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Altijd | In 1 aandoening |
| MED23mediator complex subunit 23 | Altijd | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Altijd | In 1 aandoening |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altijd | In 1 aandoening |
| PDE2Aphosphodiesterase 2A | Altijd | In 1 aandoening |
| RTTNrotatin | Altijd | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Altijd | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Altijd | In 2 aandoeningen |
| SPTBN4spectrin beta, non-erythrocytic 4 | Altijd | In 1 aandoening |
| TMEM63Btransmembrane protein 63B | Altijd | In 1 aandoening |
| TOP2BDNA topoisomerase II beta | Altijd | In 1 aandoening |
| TRIT1tRNA isopentenyltransferase 1 | Altijd | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Altijd | In 5 aandoeningen |
| VAMP2vesicle associated membrane protein 2 | Altijd | In 1 aandoening |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altijd | In 2 aandoeningen |
| WWOXWW domain containing oxidoreductase | Altijd | In 2 aandoeningen |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Altijd | In 1 aandoening |
| ABAT4-aminobutyrate aminotransferase | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 268 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ACOX1acyl-CoA oxidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ADRA2Badrenoceptor alpha 2B | Heel vaak (80–99%) | In 1 aandoening |
| AFG2AAAA ATPase AFG2A | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Heel vaak (80–99%) | In 1 aandoening |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Heel vaak (80–99%) | In 4 aandoeningen |
| CASZ1castor zinc finger 1 | Heel vaak (80–99%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| CLTRNcollectrin, amino acid transport regulator | Heel vaak (80–99%) | In 1 aandoening |
| CNTN2contactin 2 | Heel vaak (80–99%) | In 1 aandoening |
| CNTNAP2contactin associated protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| CPLX1complexin 1 | Heel vaak (80–99%) | In 1 aandoening |
| CRPPACDP-L-ribitol pyrophosphorylase A | Heel vaak (80–99%) | In 1 aandoening |
| CTBP1C-terminal binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| CTNND2catenin delta 2 | Heel vaak (80–99%) | In 1 aandoening |
| DDB2damage specific DNA binding protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Heel vaak (80–99%) | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Heel vaak (80–99%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 1 aandoening |
| FGFRL1fibroblast growth factor receptor like 1 | Heel vaak (80–99%) | In 1 aandoening |
| FKRPfukutin related protein | Heel vaak (80–99%) | In 1 aandoening |
| FKTNfukutin | Heel vaak (80–99%) | In 2 aandoeningen |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Heel vaak (80–99%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Heel vaak (80–99%) | In 1 aandoening |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| HIC1HIC ZBTB transcriptional repressor 1 | Heel vaak (80–99%) | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Heel vaak (80–99%) | In 1 aandoening |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 2 aandoeningen |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| LUZP1leucine zipper protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Heel vaak (80–99%) | In 2 aandoeningen |
| MARCHF6membrane associated ring-CH-type finger 6 | Heel vaak (80–99%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Heel vaak (80–99%) | In 5 aandoeningen |
| MMP23Bmatrix metallopeptidase 23B | Heel vaak (80–99%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Heel vaak (80–99%) | In 1 aandoening |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Heel vaak (80–99%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Heel vaak (80–99%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Heel vaak (80–99%) | In 1 aandoening |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Heel vaak (80–99%) | In 1 aandoening |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Heel vaak (80–99%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Heel vaak (80–99%) | In 1 aandoening |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Heel vaak (80–99%) | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Heel vaak (80–99%) | In 1 aandoening |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Heel vaak (80–99%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Heel vaak (80–99%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| NSD2nuclear receptor binding SET domain protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| NTNG1netrin G1 | Heel vaak (80–99%) | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Heel vaak (80–99%) | In 1 aandoening |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| PDPNpodoplanin | Heel vaak (80–99%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX10peroxisomal biogenesis factor 10 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX11Bperoxisomal biogenesis factor 11 beta | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX12peroxisomal biogenesis factor 12 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX13peroxisomal biogenesis factor 13 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX14peroxisomal biogenesis factor 14 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX16peroxisomal biogenesis factor 16 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX19peroxisomal biogenesis factor 19 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX2peroxisomal biogenesis factor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX26peroxisomal biogenesis factor 26 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX3peroxisomal biogenesis factor 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX5peroxisomal biogenesis factor 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX6peroxisomal biogenesis factor 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Heel vaak (80–99%) | In 2 aandoeningen |
| POMT1protein O-mannosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Heel vaak (80–99%) | In 1 aandoening |
| PPFIA3PPFI scaffold protein A3 | Heel vaak (80–99%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Heel vaak (80–99%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Heel vaak (80–99%) | In 1 aandoening |
| PRRT2proline rich transmembrane protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Heel vaak (80–99%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Heel vaak (80–99%) | In 1 aandoening |
| ROGDIrogdi atypical leucine zipper | Heel vaak (80–99%) | In 1 aandoening |
| SAMD12sterile alpha motif domain containing 12 | Heel vaak (80–99%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SKISKI proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| SLC12A6solute carrier family 12 member 6 | Heel vaak (80–99%) | In 1 aandoening |
| SLC13A5solute carrier family 13 member 5 | Heel vaak (80–99%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| SLC6A19solute carrier family 6 member 19 | Heel vaak (80–99%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Heel vaak (80–99%) | In 1 aandoening |
| SYT1synaptotagmin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TBC1D24TBC1 domain family member 24 | Heel vaak (80–99%) | In 1 aandoening |
| TBK1TANK binding kinase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| TICAM1TIR domain containing adaptor molecule 1 | Heel vaak (80–99%) | In 1 aandoening |
| TIMM50translocase of inner mitochondrial membrane 50 | Heel vaak (80–99%) | In 1 aandoening |
| TLR3toll like receptor 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Heel vaak (80–99%) | In 1 aandoening |
| TRAF3TNF receptor associated factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| UBE4Bubiquitination factor E4B | Heel vaak (80–99%) | In 1 aandoening |
| UNC93B1unc-93B1 regulator of TLR signaling | Heel vaak (80–99%) | In 1 aandoening |
| XPAXPA, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Heel vaak (80–99%) | In 1 aandoening |
| YEATS2YEATS domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Heel vaak (80–99%) | In 1 aandoening |
| ZNHIT3zinc finger HIT-type containing 3 | Heel vaak (80–99%) | In 1 aandoening |
| ABCA5ATP binding cassette subfamily A member 5 | Vaak (30–79%) | In 1 aandoening |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Vaak (30–79%) | In 1 aandoening |
| AHSGalpha 2-HS glycoprotein | Vaak (30–79%) | In 1 aandoening |
| ANKRD17ankyrin repeat domain 17 | Vaak (30–79%) | In 1 aandoening |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Vaak (30–79%) | In 1 aandoening |
| ARG1arginase 1 | Vaak (30–79%) | In 1 aandoening |
| ARXaristaless related homeobox | Vaak (30–79%) | In 3 aandoeningen |
| ASLargininosuccinate lyase | Vaak (30–79%) | In 1 aandoening |
| ATP10AATPase phospholipid transporting 10A (putative) | Vaak (30–79%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Vaak (30–79%) | In 1 aandoening |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Vaak (30–79%) | In 2 aandoeningen |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 1 aandoening |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Vaak (30–79%) | In 1 aandoening |
| CHD2chromodomain helicase DNA binding protein 2 | Vaak (30–79%) | In 1 aandoening |
| CLCN6Cl-/H+ antiporter 6 | Vaak (30–79%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Vaak (30–79%) | In 3 aandoeningen |
| DMXL2Dmx like 2 | Vaak (30–79%) | In 1 aandoening |
| DNM1dynamin 1 | Vaak (30–79%) | In 1 aandoening |
| DNM1Ldynamin 1L | Vaak (30–79%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Vaak (30–79%) | In 1 aandoening |
| FOXG1forkhead box G1 | Vaak (30–79%) | In 1 aandoening |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Vaak (30–79%) | In 1 aandoening |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Vaak (30–79%) | In 1 aandoening |
| GFM1G elongation factor mitochondrial 1 | Vaak (30–79%) | In 1 aandoening |
| GNAO1G protein subunit alpha o1 | Vaak (30–79%) | In 1 aandoening |
| GNB1G protein subunit beta 1 | Vaak (30–79%) | In 1 aandoening |
| GON7GON7 subunit of KEOPS complex | Vaak (30–79%) | In 1 aandoening |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Vaak (30–79%) | In 1 aandoening |
| GRM7glutamate metabotropic receptor 7 | Vaak (30–79%) | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Vaak (30–79%) | In 1 aandoening |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Vaak (30–79%) | In 2 aandoeningen |
| ITGB6integrin subunit beta 6 | Vaak (30–79%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Vaak (30–79%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Vaak (30–79%) | In 1 aandoening |
| LAGE3L antigen family member 3 | Vaak (30–79%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Vaak (30–79%) | In 1 aandoening |
| LSSlanosterol synthase | Vaak (30–79%) | In 1 aandoening |
| MAFMAF bZIP transcription factor | Vaak (30–79%) | In 1 aandoening |
| MAP2K1mitogen-activated protein kinase kinase 1 | Vaak (30–79%) | In 1 aandoening |
| MAP2K2mitogen-activated protein kinase kinase 2 | Vaak (30–79%) | In 1 aandoening |
| MAPK10mitogen-activated protein kinase 10 | Vaak (30–79%) | In 1 aandoening |
| MARK2microtubule affinity regulating kinase 2 | Vaak (30–79%) | In 1 aandoening |
| MCOLN1mucolipin TRP cation channel 1 | Vaak (30–79%) | In 1 aandoening |
| MFFmitochondrial fission factor | Vaak (30–79%) | In 1 aandoening |
| MSL2MSL complex subunit 2 | Vaak (30–79%) | In 1 aandoening |
| NAXDNAD(P)HX dehydratase | Vaak (30–79%) | In 1 aandoening |
| NEU1neuraminidase 1 | Vaak (30–79%) | In 1 aandoening |
| NEUROD2neuronal differentiation 2 | Vaak (30–79%) | In 1 aandoening |
| NGLY1N-glycanase 1 | Vaak (30–79%) | In 1 aandoening |
| NLGN3neuroligin 3 | Vaak (30–79%) | In 2 aandoeningen |
| NLGN4Xneuroligin 4 X-linked | Vaak (30–79%) | In 2 aandoeningen |
| NOTCH2NLCnotch 2 N-terminal like C | Vaak (30–79%) | In 1 aandoening |
| NOTCH3notch receptor 3 | Vaak (30–79%) | In 1 aandoening |
| NTNG2netrin G2 | Vaak (30–79%) | In 1 aandoening |
| NUP107nucleoporin 107 | Vaak (30–79%) | In 1 aandoening |
| NUP133nucleoporin 133 | Vaak (30–79%) | In 1 aandoening |
| NUP188nucleoporin 188 | Vaak (30–79%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Vaak (30–79%) | In 1 aandoening |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Vaak (30–79%) | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Vaak (30–79%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Vaak (30–79%) | In 1 aandoening |
| PRUNE1prune exopolyphosphatase 1 | Vaak (30–79%) | In 1 aandoening |
| PTRH2peptidyl-tRNA hydrolase 2 | Vaak (30–79%) | In 1 aandoening |
| PURApurine rich element binding protein A | Vaak (30–79%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Vaak (30–79%) | In 4 aandoeningen |
| RCC1regulator of chromosome condensation 1 | Vaak (30–79%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Vaak (30–79%) | In 2 aandoeningen |
| SATB1SATB homeobox 1 | Vaak (30–79%) | In 2 aandoeningen |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Vaak (30–79%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Vaak (30–79%) | In 2 aandoeningen |
| SIK1salt inducible kinase 1 | Vaak (30–79%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Vaak (30–79%) | In 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Vaak (30–79%) | In 1 aandoening |
| SLC9A6solute carrier family 9 member A6 | Vaak (30–79%) | In 1 aandoening |
| SNF8SNF8 subunit of ESCRT-II | Vaak (30–79%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Vaak (30–79%) | In 2 aandoeningen |
| SPTBN1spectrin beta, non-erythrocytic 1 | Vaak (30–79%) | In 1 aandoening |
| TET3tet methylcytosine dioxygenase 3 | Vaak (30–79%) | In 1 aandoening |
| TP53RKTP53 regulating kinase | Vaak (30–79%) | In 1 aandoening |
| TPRKBTP53RK binding protein | Vaak (30–79%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Vaak (30–79%) | In 1 aandoening |
| UBTFupstream binding transcription factor | Vaak (30–79%) | In 1 aandoening |
| WDR73WD repeat domain 73 | Vaak (30–79%) | In 1 aandoening |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Vaak (30–79%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Vaak (30–79%) | In 2 aandoeningen |
| ANKRD11ankyrin repeat domain 11 | Soms (5–29%) | In 1 aandoening |
| ARHGAP31Rho GTPase activating protein 31 | Soms (5–29%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Soms (5–29%) | In 1 aandoening |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Soms (5–29%) | In 1 aandoening |
| CBScystathionine beta-synthase | Soms (5–29%) | In 1 aandoening |
| CUL4Bcullin 4B | Soms (5–29%) | In 1 aandoening |
| DDCdopa decarboxylase | Soms (5–29%) | In 1 aandoening |
| DLL4delta like canonical Notch ligand 4 | Soms (5–29%) | In 1 aandoening |
| DOCK6dedicator of cytokinesis 6 | Soms (5–29%) | In 1 aandoening |
| EMC1ER membrane protein complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Soms (5–29%) | In 1 aandoening |
| FDXRferredoxin reductase | Soms (5–29%) | In 1 aandoening |
| FOXP1forkhead box P1 | Soms (5–29%) | In 1 aandoening |
| GALCgalactosylceramidase | Soms (5–29%) | In 2 aandoeningen |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Soms (5–29%) | In 1 aandoening |
| KDM6Alysine demethylase 6A | Soms (5–29%) | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Soms (5–29%) | In 1 aandoening |
| MED13Lmediator complex subunit 13L | Soms (5–29%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Soms (5–29%) | In 1 aandoening |
| NECTIN1nectin cell adhesion molecule 1 | Soms (5–29%) | In 1 aandoening |
| NLRP3NLR family pyrin domain containing 3 | Soms (5–29%) | In 1 aandoening |
| NOTCH1notch receptor 1 | Soms (5–29%) | In 1 aandoening |
| PLCH1phospholipase C eta 1 | Soms (5–29%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Soms (5–29%) | In 1 aandoening |
| PRNPprion protein (Kanno blood group) | Soms (5–29%) | In 1 aandoening |
| PSAPprosaposin | Soms (5–29%) | In 1 aandoening |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Soms (5–29%) | In 1 aandoening |
| RELREL proto-oncogene, NF-kB subunit | Soms (5–29%) | In 1 aandoening |
| SLC44A1solute carrier family 44 member 1 | Soms (5–29%) | In 1 aandoening |
| SMSspermine synthase | Soms (5–29%) | In 1 aandoening |
| WDR62WD repeat domain 62 | Soms (5–29%) | In 1 aandoening |
| XPO1exportin 1 | Soms (5–29%) | In 1 aandoening |
| ANTXR1ANTXR cell adhesion molecule 1 | Zelden (1–4%) | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Zelden (1–4%) | In 2 aandoeningen |
| RUSC2RUN and SH3 domain containing 2 | Zelden (1–4%) | In 1 aandoening |
| TRAPPC11trafficking protein particle complex subunit 11 | Zelden (1–4%) | In 1 aandoening |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Niet vastgelegd | In 1 aandoening |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Niet vastgelegd | In 1 aandoening |
| APOL2apolipoprotein L2 | Niet vastgelegd | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Niet vastgelegd | In 1 aandoening |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Niet vastgelegd | In 1 aandoening |
| CHI3L1chitinase 3 like 1 | Niet vastgelegd | In 1 aandoening |
| CLN8CLN8 transmembrane ER and ERGIC protein | Niet vastgelegd | In 2 aandoeningen |
| DAOAD-amino acid oxidase activator | Niet vastgelegd | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Niet vastgelegd | In 1 aandoening |
| DISC2disrupted in schizophrenia 2 | Niet vastgelegd | In 1 aandoening |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Niet vastgelegd | In 1 aandoening |
| DRD3dopamine receptor D3 | Niet vastgelegd | In 1 aandoening |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Niet vastgelegd | In 1 aandoening |
| FLCNfolliculin | Niet vastgelegd | In 1 aandoening |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Niet vastgelegd | In 1 aandoening |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Niet vastgelegd | In 1 aandoening |
| HTR2A5-hydroxytryptamine receptor 2A | Niet vastgelegd | In 1 aandoening |
| IREB2iron responsive element binding protein 2 | Niet vastgelegd | In 1 aandoening |
| LAMC3laminin subunit gamma 3 | Niet vastgelegd | In 1 aandoening |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| MFSD8major facilitator superfamily domain containing 8 | Niet vastgelegd | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Niet vastgelegd | In 1 aandoening |
| MTHFRmethylenetetrahydrofolate reductase | Niet vastgelegd | In 1 aandoening |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Niet vastgelegd | In 1 aandoening |
| PCK1phosphoenolpyruvate carboxykinase 1 | Niet vastgelegd | In 1 aandoening |
| PHF6PHD finger protein 6 | Niet vastgelegd | In 1 aandoening |
| PPT1palmitoyl-protein thioesterase 1 | Niet vastgelegd | In 1 aandoening |
| PRODHproline dehydrogenase 1 | Niet vastgelegd | In 1 aandoening |
| RTN4Rreticulon 4 receptor | Niet vastgelegd | In 1 aandoening |
| SLC1A3solute carrier family 1 member 3 | Niet vastgelegd | In 1 aandoening |
| SNIP1Smad nuclear interacting protein 1 | Niet vastgelegd | In 1 aandoening |
| SYN2synapsin II | Niet vastgelegd | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Niet vastgelegd | In 1 aandoening |
| SZT2SZT2 subunit of KICSTOR complex | Niet vastgelegd | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Niet vastgelegd | In 2 aandoeningen |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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