Egenskap
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.
Sammendrag
- Også kalt
- Abnormal EEG, Abnormal electroencephalogram, EEG abnormalities, Electroencephalogram abnormal, Electroencephalogram abnormalities
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der EEG abnormality forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 2 tilstander |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alltid | I 1 tilstand |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Alltid | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Alltid | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Alltid | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Alltid | I 1 tilstand |
| COG3component of oligomeric golgi complex 3 | Alltid | I 1 tilstand |
| COX16cytochrome c oxidase assembly factor COX16 | Alltid | I 1 tilstand |
| CTNNA2catenin alpha 2 | Alltid | I 1 tilstand |
| CUX2cut like homeobox 2 | Alltid | I 2 tilstander |
| DEAF1DEAF1 transcription factor | Alltid | I 1 tilstand |
| DENND5ADENN domain containing 5A | Alltid | I 1 tilstand |
| DHPSdeoxyhypusine synthase | Alltid | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Alltid | I 1 tilstand |
| FAM177A1family with sequence similarity 177 member A1 | Alltid | I 1 tilstand |
| GNB2G protein subunit beta 2 | Alltid | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alltid | I 3 tilstander |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Alltid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Alltid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Alltid | I 1 tilstand |
| MED23mediator complex subunit 23 | Alltid | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Alltid | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tilstand |
| PDE2Aphosphodiesterase 2A | Alltid | I 1 tilstand |
| RTTNrotatin | Alltid | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Alltid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Alltid | I 2 tilstander |
| SPTBN4spectrin beta, non-erythrocytic 4 | Alltid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Alltid | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Alltid | I 1 tilstand |
| TRIT1tRNA isopentenyltransferase 1 | Alltid | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Alltid | I 5 tilstander |
| VAMP2vesicle associated membrane protein 2 | Alltid | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alltid | I 2 tilstander |
| WWOXWW domain containing oxidoreductase | Alltid | I 2 tilstander |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Alltid | I 1 tilstand |
| ABAT4-aminobutyrate aminotransferase | Svært ofte (80–99 %) | I 1 tilstand |
Vis 268 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACOX1acyl-CoA oxidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ADRA2Badrenoceptor alpha 2B | Svært ofte (80–99 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Svært ofte (80–99 %) | I 2 tilstander |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Svært ofte (80–99 %) | I 2 tilstander |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Svært ofte (80–99 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Svært ofte (80–99 %) | I 4 tilstander |
| CASZ1castor zinc finger 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Svært ofte (80–99 %) | I 2 tilstander |
| CLTRNcollectrin, amino acid transport regulator | Svært ofte (80–99 %) | I 1 tilstand |
| CNTN2contactin 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Svært ofte (80–99 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CTNND2catenin delta 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Svært ofte (80–99 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Svært ofte (80–99 %) | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FKRPfukutin related protein | Svært ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Svært ofte (80–99 %) | I 2 tilstander |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Svært ofte (80–99 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Svært ofte (80–99 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Svært ofte (80–99 %) | I 2 tilstander |
| HIC1HIC ZBTB transcriptional repressor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Svært ofte (80–99 %) | I 2 tilstander |
| MARCHF6membrane associated ring-CH-type finger 6 | Svært ofte (80–99 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Svært ofte (80–99 %) | I 5 tilstander |
| MMP23Bmatrix metallopeptidase 23B | Svært ofte (80–99 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Svært ofte (80–99 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Svært ofte (80–99 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Svært ofte (80–99 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Svært ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NTNG1netrin G1 | Svært ofte (80–99 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Svært ofte (80–99 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PDPNpodoplanin | Svært ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX10peroxisomal biogenesis factor 10 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX11Bperoxisomal biogenesis factor 11 beta | Svært ofte (80–99 %) | I 2 tilstander |
| PEX12peroxisomal biogenesis factor 12 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX13peroxisomal biogenesis factor 13 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX14peroxisomal biogenesis factor 14 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX16peroxisomal biogenesis factor 16 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX19peroxisomal biogenesis factor 19 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX2peroxisomal biogenesis factor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX26peroxisomal biogenesis factor 26 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX3peroxisomal biogenesis factor 3 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX5peroxisomal biogenesis factor 5 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX6peroxisomal biogenesis factor 6 | Svært ofte (80–99 %) | I 2 tilstander |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Svært ofte (80–99 %) | I 2 tilstander |
| POMT1protein O-mannosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Svært ofte (80–99 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Svært ofte (80–99 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Svært ofte (80–99 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Svært ofte (80–99 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Svært ofte (80–99 %) | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Svært ofte (80–99 %) | I 1 tilstand |
| SAMD12sterile alpha motif domain containing 12 | Svært ofte (80–99 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SKISKI proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Svært ofte (80–99 %) | I 3 tilstander |
| SLC6A19solute carrier family 6 member 19 | Svært ofte (80–99 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Svært ofte (80–99 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TBC1D24TBC1 domain family member 24 | Svært ofte (80–99 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TICAM1TIR domain containing adaptor molecule 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Svært ofte (80–99 %) | I 1 tilstand |
| TLR3toll like receptor 3 | Svært ofte (80–99 %) | I 2 tilstander |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Svært ofte (80–99 %) | I 1 tilstand |
| TRAF3TNF receptor associated factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Svært ofte (80–99 %) | I 1 tilstand |
| UNC93B1unc-93B1 regulator of TLR signaling | Svært ofte (80–99 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Svært ofte (80–99 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Svært ofte (80–99 %) | I 1 tilstand |
| YEATS2YEATS domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Svært ofte (80–99 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Svært 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| NLGN4Xneuroligin 4 X-linked | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| RCC1regulator of chromosome condensation 1 | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 2 tilstander |
| SATB1SATB homeobox 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| ANKRD11ankyrin repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Noen ganger (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Noen ganger (5–29 %) | I 1 tilstand |
| CUL4Bcullin 4B | Noen ganger (5–29 %) | I 1 tilstand |
| DDCdopa decarboxylase | Noen ganger (5–29 %) | I 1 tilstand |
| DLL4delta like canonical Notch ligand 4 | Noen ganger (5–29 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Noen ganger (5–29 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Noen ganger (5–29 %) | I 1 tilstand |
| FDXRferredoxin reductase | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Noen ganger (5–29 %) | I 1 tilstand |
| GALCgalactosylceramidase | Noen ganger (5–29 %) | I 2 tilstander |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Noen ganger (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Noen ganger (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Noen ganger (5–29 %) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Noen ganger (5–29 %) | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Noen ganger (5–29 %) | I 1 tilstand |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Noen ganger (5–29 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SLC44A1solute carrier family 44 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Noen ganger (5–29 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Noen ganger (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Sjelden (1–4%) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Sjelden (1–4%) | I 2 tilstander |
| RUSC2RUN and SH3 domain containing 2 | Sjelden (1–4%) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Sjelden (1–4%) | I 1 tilstand |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Ikke registrert | I 1 tilstand |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Ikke registrert | I 1 tilstand |
| APOL2apolipoprotein L2 | Ikke registrert | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ikke registrert | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registrert | I 1 tilstand |
| CHI3L1chitinase 3 like 1 | Ikke registrert | I 1 tilstand |
| CLN8CLN8 transmembrane ER and ERGIC protein | Ikke registrert | I 2 tilstander |
| DAOAD-amino acid oxidase activator | Ikke registrert | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ikke registrert | I 1 tilstand |
| DISC2disrupted in schizophrenia 2 | Ikke registrert | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Ikke registrert | I 1 tilstand |
| DRD3dopamine receptor D3 | Ikke registrert | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Ikke registrert | I 1 tilstand |
| FLCNfolliculin | Ikke registrert | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ikke registrert | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ikke registrert | I 1 tilstand |
| HTR2A5-hydroxytryptamine receptor 2A | Ikke registrert | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Ikke registrert | I 1 tilstand |
| LAMC3laminin subunit gamma 3 | Ikke registrert | I 1 tilstand |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| MFSD8major facilitator superfamily domain containing 8 | Ikke registrert | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ikke registrert | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Ikke registrert | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Ikke registrert | I 1 tilstand |
| PCK1phosphoenolpyruvate carboxykinase 1 | Ikke registrert | I 1 tilstand |
| PHF6PHD finger protein 6 | Ikke registrert | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registrert | I 1 tilstand |
| PRODHproline dehydrogenase 1 | Ikke registrert | I 1 tilstand |
| RTN4Rreticulon 4 receptor | Ikke registrert | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Ikke registrert | I 1 tilstand |
| SNIP1Smad nuclear interacting protein 1 | Ikke registrert | I 1 tilstand |
| SYN2synapsin II | Ikke registrert | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ikke registrert | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Ikke registrert | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Ikke registrert | I 2 tilstander |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
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