abnormal nervous system electrophysiology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. (Human Phenotype Ontology, HP_0001311)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001311
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Genes

244 genes associated with the abnormal nervous system electrophysiology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
AARS2 alanyl-tRNA synthetase 2, mitochondrial
AASS aminoadipate-semialdehyde synthase
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABHD12 abhydrolase domain containing 12
ACOX1 acyl-CoA oxidase 1, palmitoyl
ADRA2B adrenoceptor alpha 2B
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALG3 ALG3, alpha-1,3- mannosyltransferase
ANKRD11 ankyrin repeat domain 11
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARG1 arginase 1
ARHGAP31 Rho GTPase activating protein 31
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10
ARSA arylsulfatase A
ARX aristaless related homeobox
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASL argininosuccinate lyase
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPA aspartoacylase
ATP10A ATPase, class V, type 10A
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATXN1 ataxin 1
ATXN10 ataxin 10
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
C5ORF42 chromosome 5 open reading frame 42
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CDKL5 cyclin-dependent kinase-like 5
CEP126 centrosomal protein 126kDa
CHD2 chromodomain helicase DNA binding protein 2
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CNTN2 contactin 2 (axonal)
COL4A1 collagen, type IV, alpha 1
COX1
COX2
COX3
CREBBP CREB binding protein
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DCAF8 DDB1 and CUL4 associated factor 8
DIAPH3 diaphanous-related formin 3
DISC2 disrupted in schizophrenia 2 (non-protein coding)
DOCK6 dedicator of cytokinesis 6
DOCK7 dedicator of cytokinesis 7
DOLK dolichol kinase
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EDNRB endothelin receptor type B
EGR2 early growth response 2
EMX2 empty spiracles homeobox 2
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC1 excision repair cross-complementation group 1
ERCC3 excision repair cross-complementation group 3
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ERMARD ER membrane-associated RNA degradation
FAM126A family with sequence similarity 126, member A
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBN1 fibrillin 1
FGD4 FYVE, RhoGEF and PH domain containing 4
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FOXG1 forkhead box G1
FXN frataxin
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALC galactosylceramidase
GCK glucokinase (hexokinase 4)
GDAP1 ganglioside induced differentiation associated protein 1
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLYCTK glycerate kinase
GMPPB GDP-mannose pyrophosphorylase B
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GRN granulin
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HCFC1 host cell factor C1
HIC1 hypermethylated in cancer 1
HK1 hexokinase 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPB1 heat shock 27kDa protein 1
HSPB8 heat shock 22kDa protein 8
HTT huntingtin
IDUA iduronidase, alpha-L-
IER3IP1 immediate early response 3 interacting protein 1
IGHMBP2 immunoglobulin mu binding protein 2
INS insulin
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KDM6A lysine (K)-specific demethylase 6A
KIAA2022 KIAA2022
KIF1B kinesin family member 1B
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMB2 laminin, beta 2 (laminin S)
LAMC3 laminin, gamma 3
LARGE like-glycosyltransferase
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LYST lysosomal trafficking regulator
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MATR3 matrin 3
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
MED17 mediator complex subunit 17
MED25 mediator complex subunit 25
MFN2 mitofusin 2
MFSD8 major facilitator superfamily domain containing 8
MPST mercaptopyruvate sulfurtransferase
MPZ myelin protein zero
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTMR2 myotubularin related protein 2
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NALCN sodium leak channel, non selective
ND1
NDP Norrie disease (pseudoglioma)
NDRG1 N-myc downstream regulated 1
NEFL neurofilament, light polypeptide
NEU1 sialidase 1 (lysosomal sialidase)
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NLGN4X neuroligin 4, X-linked
NOTCH1 notch 1
NOTCH3 notch 3
NSD1 nuclear receptor binding SET domain protein 1
NTNG1 netrin G1
OCA2 oculocutaneous albinism II
OCRL oculocerebrorenal syndrome of Lowe
OPA1 optic atrophy 1 (autosomal dominant)
OTOF otoferlin
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PMP22 peripheral myelin protein 22
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PPT1 palmitoyl-protein thioesterase 1
PRDM16 PR domain containing 16
PRICKLE2 prickle homolog 2 (Drosophila)
PRODH proline dehydrogenase (oxidase) 1
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRT2 proline-rich transmembrane protein 2
PRX periaxin
PSAP prosaposin
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAB7A RAB7A, member RAS oncogene family
RAI1 retinoic acid induced 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROGDI rogdi homolog (Drosophila)
RTTN rotatin
SACS sacsin molecular chaperone
SBF2 SET binding factor 2
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SETBP1 SET binding protein 1
SETX senataxin
SH2B1 SH2B adaptor protein 1
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHH sonic hedgehog
SIM1 single-minded family bHLH transcription factor 1
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SNAP29 synaptosomal-associated protein, 29kDa
SNIP1 Smad nuclear interacting protein 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX10 SRY (sex determining region Y)-box 10
SPTAN1 spectrin, alpha, non-erythrocytic 1
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
STXBP1 syntaxin binding protein 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUMF1 sulfatase modifying factor 1
SYNGAP1 synaptic Ras GTPase activating protein 1
SZT2 seizure threshold 2 homolog (mouse)
TNXB tenascin XB
TPI1 triosephosphate isomerase 1
TPP1 tripeptidyl peptidase I
TREM2 triggering receptor expressed on myeloid cells 2
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TUBB2A tubulin, beta 2A class IIa
TYROBP TYRO protein tyrosine kinase binding protein
UBE3A ubiquitin protein ligase E3A
UPB1 ureidopropionase, beta
WFS1 Wolfram syndrome 1 (wolframin)
WNK1 WNK lysine deficient protein kinase 1
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon