abnormality of peripheral nerves Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0045010
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Genes

89 genes associated with the abnormality of peripheral nerves 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
DCAF8 DDB1 and CUL4 associated factor 8
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
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
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
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
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)
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