Trait
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.
Summary
- Also called
- Abnormal EEG, Abnormal electroencephalogram, EEG abnormalities, Electroencephalogram abnormal, Electroencephalogram abnormalities
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test308 genes linked to EEG abnormality
Changes in these genes cause rare conditions in which EEG abnormality is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Always | In 2 conditions |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Always | In 1 condition |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Always | In 1 condition |
| CCDC47coiled-coil domain containing 47 | Always | In 1 condition |
| CEP85Lcentrosomal protein 85L | Always | In 1 condition |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Always | In 1 condition |
| COG3component of oligomeric golgi complex 3 | Always | In 1 condition |
| COX16cytochrome c oxidase assembly factor COX16 | Always | In 1 condition |
| CTNNA2catenin alpha 2 | Always | In 1 condition |
| CUX2cut like homeobox 2 | Always | In 2 conditions |
| DEAF1DEAF1 transcription factor | Always | In 1 condition |
| DENND5ADENN domain containing 5A | Always | In 1 condition |
| DHPSdeoxyhypusine synthase | Always | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Always | In 1 condition |
| FAM177A1family with sequence similarity 177 member A1 | Always | In 1 condition |
| GNB2G protein subunit beta 2 | Always | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Always | In 3 conditions |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Always | In 1 condition |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Always | In 1 condition |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Always | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Always | In 1 condition |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Always | In 1 condition |
| MED23mediator complex subunit 23 | Always | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Always | In 1 condition |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Always | In 1 condition |
| PDE2Aphosphodiesterase 2A | Always | In 1 condition |
| RTTNrotatin | Always | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Always | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Always | In 2 conditions |
| SPTBN4spectrin beta, non-erythrocytic 4 | Always | In 1 condition |
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| TOP2BDNA topoisomerase II beta | Always | In 1 condition |
| TRIT1tRNA isopentenyltransferase 1 | Always | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Always | In 5 conditions |
| VAMP2vesicle associated membrane protein 2 | Always | In 1 condition |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Always | In 2 conditions |
| WWOXWW domain containing oxidoreductase | Always | In 2 conditions |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Always | In 1 condition |
| ABAT4-aminobutyrate aminotransferase | Very often (80–99%) | In 1 condition |
Show 268 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ACOX1acyl-CoA oxidase 1 | Very often (80–99%) | In 1 condition |
| ADRA2Badrenoceptor alpha 2B | Very often (80–99%) | In 1 condition |
| AFG2AAAA ATPase AFG2A | Very often (80–99%) | In 2 conditions |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Very often (80–99%) | In 2 conditions |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Very often (80–99%) | In 1 condition |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Very often (80–99%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Very often (80–99%) | In 4 conditions |
| CASZ1castor zinc finger 1 | Very often (80–99%) | In 1 condition |
| CDKL5cyclin dependent kinase like 5 | Very often (80–99%) | In 2 conditions |
| CLTRNcollectrin, amino acid transport regulator | Very often (80–99%) | In 1 condition |
| CNTN2contactin 2 | Very often (80–99%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Very often (80–99%) | In 1 condition |
| CPLX1complexin 1 | Very often (80–99%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Very often (80–99%) | In 1 condition |
| CTBP1C-terminal binding protein 1 | Very often (80–99%) | In 1 condition |
| CTNND2catenin delta 2 | Very often (80–99%) | In 1 condition |
| DDB2damage specific DNA binding protein 2 | Very often (80–99%) | In 1 condition |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Very often (80–99%) | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Very often (80–99%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Very often (80–99%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Very often (80–99%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Very often (80–99%) | In 1 condition |
| ERCC5ERCC excision repair 5, endonuclease | Very often (80–99%) | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | Very often (80–99%) | In 1 condition |
| FKRPfukutin related protein | Very often (80–99%) | In 1 condition |
| FKTNfukutin | Very often (80–99%) | In 2 conditions |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Very often (80–99%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Very often (80–99%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Very often (80–99%) | In 1 condition |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Very often (80–99%) | In 2 conditions |
| HIC1HIC ZBTB transcriptional repressor 1 | Very often (80–99%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Very often (80–99%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Very often (80–99%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 2 conditions |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Very often (80–99%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Very often (80–99%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Very often (80–99%) | In 1 condition |
| MADDMAP kinase activating death domain | Very often (80–99%) | In 2 conditions |
| MARCHF6membrane associated ring-CH-type finger 6 | Very often (80–99%) | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Very often (80–99%) | In 5 conditions |
| MMP23Bmatrix metallopeptidase 23B | Very often (80–99%) | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Very often (80–99%) | In 1 condition |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Very often (80–99%) | In 1 condition |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Very often (80–99%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Very often (80–99%) | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Very often (80–99%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Very often (80–99%) | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Very often (80–99%) | In 1 condition |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Very often (80–99%) | In 1 condition |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Very often (80–99%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Very often (80–99%) | In 1 condition |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Very often (80–99%) | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Very often (80–99%) | In 1 condition |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Very often (80–99%) | In 1 condition |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Very often (80–99%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Very often (80–99%) | In 1 condition |
| NTNG1netrin G1 | Very often (80–99%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Very often (80–99%) | In 1 condition |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Very often (80–99%) | In 1 condition |
| PDPNpodoplanin | Very often (80–99%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Very often (80–99%) | In 2 conditions |
| PEX10peroxisomal biogenesis factor 10 | Very often (80–99%) | In 2 conditions |
| PEX11Bperoxisomal biogenesis factor 11 beta | Very often (80–99%) | In 2 conditions |
| PEX12peroxisomal biogenesis factor 12 | Very often (80–99%) | In 2 conditions |
| PEX13peroxisomal biogenesis factor 13 | Very often (80–99%) | In 2 conditions |
| PEX14peroxisomal biogenesis factor 14 | Very often (80–99%) | In 2 conditions |
| PEX16peroxisomal biogenesis factor 16 | Very often (80–99%) | In 2 conditions |
| PEX19peroxisomal biogenesis factor 19 | Very often (80–99%) | In 2 conditions |
| PEX2peroxisomal biogenesis factor 2 | Very often (80–99%) | In 2 conditions |
| PEX26peroxisomal biogenesis factor 26 | Very often (80–99%) | In 2 conditions |
| PEX3peroxisomal biogenesis factor 3 | Very often (80–99%) | In 2 conditions |
| PEX5peroxisomal biogenesis factor 5 | Very often (80–99%) | In 2 conditions |
| PEX6peroxisomal biogenesis factor 6 | Very often (80–99%) | In 2 conditions |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Very often (80–99%) | In 2 conditions |
| POMT1protein O-mannosyltransferase 1 | Very often (80–99%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Very often (80–99%) | In 1 condition |
| PPFIA3PPFI scaffold protein A3 | Very often (80–99%) | In 1 condition |
| PRDM16PR/SET domain 16 | Very often (80–99%) | In 1 condition |
| PRKCZprotein kinase C zeta | Very often (80–99%) | In 1 condition |
| PRRT2proline rich transmembrane protein 2 | Very often (80–99%) | In 1 condition |
| RAPGEF2Rap guanine nucleotide exchange factor 2 | Very often (80–99%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Very often (80–99%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Very often (80–99%) | In 1 condition |
| ROGDIrogdi atypical leucine zipper | Very often (80–99%) | In 1 condition |
| SAMD12sterile alpha motif domain containing 12 | Very often (80–99%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Very often (80–99%) | In 2 conditions |
| SKISKI proto-oncogene | Very often (80–99%) | In 1 condition |
| SLC12A6solute carrier family 12 member 6 | Very often (80–99%) | In 1 condition |
| SLC13A5solute carrier family 13 member 5 | Very often (80–99%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Very often (80–99%) | In 3 conditions |
| SLC6A19solute carrier family 6 member 19 | Very often (80–99%) | In 1 condition |
| SPENspen family transcriptional repressor | Very often (80–99%) | In 1 condition |
| SYT1synaptotagmin 1 | Very often (80–99%) | In 2 conditions |
| TBC1D24TBC1 domain family member 24 | Very often (80–99%) | In 1 condition |
| TBK1TANK binding kinase 1 | Very often (80–99%) | In 2 conditions |
| TICAM1TIR domain containing adaptor molecule 1 | Very often (80–99%) | In 1 condition |
| TIMM50translocase of inner mitochondrial membrane 50 | Very often (80–99%) | In 1 condition |
| TLR3toll like receptor 3 | Very often (80–99%) | In 2 conditions |
| TNRC6Atrinucleotide repeat containing adaptor 6A | Very often (80–99%) | In 1 condition |
| TRAF3TNF receptor associated factor 3 | Very often (80–99%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Very often (80–99%) | In 1 condition |
| UNC93B1unc-93B1 regulator of TLR signaling | Very often (80–99%) | In 1 condition |
| XPAXPA, DNA damage recognition and repair factor | Very often (80–99%) | In 1 condition |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Very often (80–99%) | In 1 condition |
| YEATS2YEATS domain containing 2 | Very often (80–99%) | In 1 condition |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Very often (80–99%) | In 1 condition |
| ZNHIT3zinc finger HIT-type containing 3 | Very often (80–99%) | In 1 condition |
| ABCA5ATP binding cassette subfamily A member 5 | Often (30–79%) | In 1 condition |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Often (30–79%) | In 1 condition |
| AHSGalpha 2-HS glycoprotein | Often (30–79%) | In 1 condition |
| ANKRD17ankyrin repeat domain 17 | Often (30–79%) | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Often (30–79%) | In 1 condition |
| ARG1arginase 1 | Often (30–79%) | In 1 condition |
| ARXaristaless related homeobox | Often (30–79%) | In 3 conditions |
| ASLargininosuccinate lyase | Often (30–79%) | In 1 condition |
| ATP10AATPase phospholipid transporting 10A (putative) | Often (30–79%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Often (30–79%) | In 2 conditions |
| CASKcalcium/calmodulin dependent serine protein kinase | Often (30–79%) | In 1 condition |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Often (30–79%) | In 1 condition |
| CHD2chromodomain helicase DNA binding protein 2 | Often (30–79%) | In 1 condition |
| CLCN6Cl-/H+ antiporter 6 | Often (30–79%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Often (30–79%) | In 3 conditions |
| DMXL2Dmx like 2 | Often (30–79%) | In 1 condition |
| DNM1dynamin 1 | Often (30–79%) | In 1 condition |
| DNM1Ldynamin 1L | Often (30–79%) | In 1 condition |
| DPYDdihydropyrimidine dehydrogenase | Often (30–79%) | In 1 condition |
| FOXG1forkhead box G1 | Often (30–79%) | In 1 condition |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Often (30–79%) | In 1 condition |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Often (30–79%) | In 1 condition |
| GFM1G elongation factor mitochondrial 1 | Often (30–79%) | In 1 condition |
| GNAO1G protein subunit alpha o1 | Often (30–79%) | In 1 condition |
| GNB1G protein subunit beta 1 | Often (30–79%) | In 1 condition |
| GON7GON7 subunit of KEOPS complex | Often (30–79%) | In 1 condition |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Often (30–79%) | In 1 condition |
| GRM7glutamate metabotropic receptor 7 | Often (30–79%) | In 1 condition |
| GTF3C3general transcription factor IIIC subunit 3 | Often (30–79%) | In 1 condition |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Often (30–79%) | In 2 conditions |
| ITGB6integrin subunit beta 6 | Often (30–79%) | In 1 condition |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Often (30–79%) | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Often (30–79%) | In 1 condition |
| LAGE3L antigen family member 3 | Often (30–79%) | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Often (30–79%) | In 1 condition |
| LSSlanosterol synthase | Often (30–79%) | In 1 condition |
| MAFMAF bZIP transcription factor | Often (30–79%) | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Often (30–79%) | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Often (30–79%) | In 1 condition |
| MAPK10mitogen-activated protein kinase 10 | Often (30–79%) | In 1 condition |
| MARK2microtubule affinity regulating kinase 2 | Often (30–79%) | In 1 condition |
| MCOLN1mucolipin TRP cation channel 1 | Often (30–79%) | In 1 condition |
| MFFmitochondrial fission factor | Often (30–79%) | In 1 condition |
| MSL2MSL complex subunit 2 | Often (30–79%) | In 1 condition |
| NAXDNAD(P)HX dehydratase | Often (30–79%) | In 1 condition |
| NEU1neuraminidase 1 | Often (30–79%) | In 1 condition |
| NEUROD2neuronal differentiation 2 | Often (30–79%) | In 1 condition |
| NGLY1N-glycanase 1 | Often (30–79%) | In 1 condition |
| NLGN3neuroligin 3 | Often (30–79%) | In 2 conditions |
| NLGN4Xneuroligin 4 X-linked | Often (30–79%) | In 2 conditions |
| NOTCH2NLCnotch 2 N-terminal like C | Often (30–79%) | In 1 condition |
| NOTCH3notch receptor 3 | Often (30–79%) | In 1 condition |
| NTNG2netrin G2 | Often (30–79%) | In 1 condition |
| NUP107nucleoporin 107 | Often (30–79%) | In 1 condition |
| NUP133nucleoporin 133 | Often (30–79%) | In 1 condition |
| NUP188nucleoporin 188 | Often (30–79%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Often (30–79%) | In 1 condition |
| OSGEPO-sialoglycoprotein endopeptidase | Often (30–79%) | In 1 condition |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Often (30–79%) | In 1 condition |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Often (30–79%) | In 1 condition |
| PNKPpolynucleotide kinase 3'-phosphatase | Often (30–79%) | In 1 condition |
| PRUNE1prune exopolyphosphatase 1 | Often (30–79%) | In 1 condition |
| PTRH2peptidyl-tRNA hydrolase 2 | Often (30–79%) | In 1 condition |
| PURApurine rich element binding protein A | Often (30–79%) | In 1 condition |
| RAI1retinoic acid induced 1 | Often (30–79%) | In 4 conditions |
| RCC1regulator of chromosome condensation 1 | Often (30–79%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Often (30–79%) | In 2 conditions |
| SATB1SATB homeobox 1 | Often (30–79%) | In 2 conditions |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Often (30–79%) | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Often (30–79%) | In 2 conditions |
| SIK1salt inducible kinase 1 | Often (30–79%) | In 1 condition |
| SLC25A22solute carrier family 25 member 22 | Often (30–79%) | In 1 condition |
| SLC32A1solute carrier family 32 member 1 | Often (30–79%) | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Often (30–79%) | In 1 condition |
| SNF8SNF8 subunit of ESCRT-II | Often (30–79%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Often (30–79%) | In 2 conditions |
| SPTBN1spectrin beta, non-erythrocytic 1 | Often (30–79%) | In 1 condition |
| TET3tet methylcytosine dioxygenase 3 | Often (30–79%) | In 1 condition |
| TP53RKTP53 regulating kinase | Often (30–79%) | In 1 condition |
| TPRKBTP53RK binding protein | Often (30–79%) | In 1 condition |
| TRIM8tripartite motif containing 8 | Often (30–79%) | In 1 condition |
| UBTFupstream binding transcription factor | Often (30–79%) | In 1 condition |
| WDR73WD repeat domain 73 | Often (30–79%) | In 1 condition |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Often (30–79%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Often (30–79%) | In 2 conditions |
| ANKRD11ankyrin repeat domain 11 | Sometimes (5–29%) | In 1 condition |
| ARHGAP31Rho GTPase activating protein 31 | Sometimes (5–29%) | In 1 condition |
| BCL11ABCL11 transcription factor A | Sometimes (5–29%) | In 1 condition |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Sometimes (5–29%) | In 1 condition |
| CBScystathionine beta-synthase | Sometimes (5–29%) | In 1 condition |
| CUL4Bcullin 4B | Sometimes (5–29%) | In 1 condition |
| DDCdopa decarboxylase | Sometimes (5–29%) | In 1 condition |
| DLL4delta like canonical Notch ligand 4 | Sometimes (5–29%) | In 1 condition |
| DOCK6dedicator of cytokinesis 6 | Sometimes (5–29%) | In 1 condition |
| EMC1ER membrane protein complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Sometimes (5–29%) | In 1 condition |
| FDXRferredoxin reductase | Sometimes (5–29%) | In 1 condition |
| FOXP1forkhead box P1 | Sometimes (5–29%) | In 1 condition |
| GALCgalactosylceramidase | Sometimes (5–29%) | In 2 conditions |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sometimes (5–29%) | In 1 condition |
| KDM6Alysine demethylase 6A | Sometimes (5–29%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Sometimes (5–29%) | In 1 condition |
| MED13Lmediator complex subunit 13L | Sometimes (5–29%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Sometimes (5–29%) | In 1 condition |
| NECTIN1nectin cell adhesion molecule 1 | Sometimes (5–29%) | In 1 condition |
| NLRP3NLR family pyrin domain containing 3 | Sometimes (5–29%) | In 1 condition |
| NOTCH1notch receptor 1 | Sometimes (5–29%) | In 1 condition |
| PLCH1phospholipase C eta 1 | Sometimes (5–29%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Sometimes (5–29%) | In 1 condition |
| PRNPprion protein (Kanno blood group) | Sometimes (5–29%) | In 1 condition |
| PSAPprosaposin | Sometimes (5–29%) | In 1 condition |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Sometimes (5–29%) | In 1 condition |
| RELREL proto-oncogene, NF-kB subunit | Sometimes (5–29%) | In 1 condition |
| SLC44A1solute carrier family 44 member 1 | Sometimes (5–29%) | In 1 condition |
| SMSspermine synthase | Sometimes (5–29%) | In 1 condition |
| WDR62WD repeat domain 62 | Sometimes (5–29%) | In 1 condition |
| XPO1exportin 1 | Sometimes (5–29%) | In 1 condition |
| ANTXR1ANTXR cell adhesion molecule 1 | Rarely (1–4%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Rarely (1–4%) | In 2 conditions |
| RUSC2RUN and SH3 domain containing 2 | Rarely (1–4%) | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Rarely (1–4%) | In 1 condition |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Not recorded | In 1 condition |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Not recorded | In 1 condition |
| APOL2apolipoprotein L2 | Not recorded | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Not recorded | In 1 condition |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Not recorded | In 1 condition |
| CHI3L1chitinase 3 like 1 | Not recorded | In 1 condition |
| CLN8CLN8 transmembrane ER and ERGIC protein | Not recorded | In 2 conditions |
| DAOAD-amino acid oxidase activator | Not recorded | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Not recorded | In 1 condition |
| DISC2disrupted in schizophrenia 2 | Not recorded | In 1 condition |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Not recorded | In 1 condition |
| DRD3dopamine receptor D3 | Not recorded | In 1 condition |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| FGF12fibroblast growth factor 12 | Not recorded | In 1 condition |
| FLCNfolliculin | Not recorded | In 1 condition |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Not recorded | In 1 condition |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Not recorded | In 1 condition |
| HTR2A5-hydroxytryptamine receptor 2A | Not recorded | In 1 condition |
| IREB2iron responsive element binding protein 2 | Not recorded | In 1 condition |
| LAMC3laminin subunit gamma 3 | Not recorded | In 1 condition |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| MFSD8major facilitator superfamily domain containing 8 | Not recorded | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Not recorded | In 1 condition |
| MTHFRmethylenetetrahydrofolate reductase | Not recorded | In 1 condition |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Not recorded | In 1 condition |
| PCK1phosphoenolpyruvate carboxykinase 1 | Not recorded | In 1 condition |
| PHF6PHD finger protein 6 | Not recorded | In 1 condition |
| PPT1palmitoyl-protein thioesterase 1 | Not recorded | In 1 condition |
| PRODHproline dehydrogenase 1 | Not recorded | In 1 condition |
| RTN4Rreticulon 4 receptor | Not recorded | In 1 condition |
| SLC1A3solute carrier family 1 member 3 | Not recorded | In 1 condition |
| SNIP1Smad nuclear interacting protein 1 | Not recorded | In 1 condition |
| SYN2synapsin II | Not recorded | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Not recorded | In 1 condition |
| SZT2SZT2 subunit of KICSTOR complex | Not recorded | In 1 condition |
| TREM2triggering receptor expressed on myeloid cells 2 | Not recorded | In 2 conditions |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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