abnormality of peripheral 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 peripheral nerve cells communicate with each other or with muscles. (Human Phenotype Ontology, HP_0030177)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0030177
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Genes

92 genes associated with the abnormality of peripheral 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
ABHD12 abhydrolase domain containing 12
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10
ARSA arylsulfatase A
ATXN1 ataxin 1
ATXN10 ataxin 10
C5ORF42 chromosome 5 open reading frame 42
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CEP126 centrosomal protein 126kDa
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
COX1
COX2
COX3
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DCAF8 DDB1 and CUL4 associated factor 8
DIAPH3 diaphanous-related formin 3
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EDNRB endothelin receptor type B
EGR2 early growth response 2
ERCC3 excision repair cross-complementation group 3
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FAM126A family with sequence similarity 126, member A
FBN1 fibrillin 1
FGD4 FYVE, RhoGEF and PH domain containing 4
FIG4 FIG4 phosphoinositide 5-phosphatase
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FXN frataxin
GALC galactosylceramidase
GDAP1 ganglioside induced differentiation associated protein 1
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HK1 hexokinase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPB1 heat shock 27kDa protein 1
HSPB8 heat shock 22kDa protein 8
IDUA iduronidase, alpha-L-
IGHMBP2 immunoglobulin mu binding protein 2
KIF1B kinesin family member 1B
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LYST lysosomal trafficking regulator
MATR3 matrin 3
MED25 mediator complex subunit 25
MFN2 mitofusin 2
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
NDRG1 N-myc downstream regulated 1
NEFL neurofilament, light polypeptide
NEU1 sialidase 1 (lysosomal sialidase)
OPA1 optic atrophy 1 (autosomal dominant)
OTOF otoferlin
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PMP22 peripheral myelin protein 22
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
PSAP prosaposin
RAB7A RAB7A, member RAS oncogene family
SACS sacsin molecular chaperone
SBF2 SET binding factor 2
SETX senataxin
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SNAP29 synaptosomal-associated protein, 29kDa
SOX10 SRY (sex determining region Y)-box 10
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUMF1 sulfatase modifying factor 1
TNXB tenascin XB
TPI1 triosephosphate isomerase 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WFS1 Wolfram syndrome 1 (wolframin)
WNK1 WNK lysine deficient protein kinase 1