Neuropathy Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description A nervous system disease that is located in the nervous system. (Experimental Factor Ontology, EFO_0004149)
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Genes

184 genes involed in the disease Neuropathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol Name Standardized Value
SEPTIN9 septin 9 5.0
KIF5A kinesin family member 5A 5.0
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B 5.0
SGPL1 sphingosine-1-phosphate lyase 1 5.0
KIF21A kinesin family member 21A 5.0
PTRH2 peptidyl-tRNA hydrolase 2 5.0
SETX senataxin 5.0
DRP2 dystrophin related protein 2 5.0
TUBB2B tubulin, beta 2B class IIb 5.0
FRMD7 FERM domain containing 7 5.0
SCO2 SCO2 cytochrome c oxidase assembly protein 5.0
PLEC plectin 5.0
CHN1 chimerin 1 5.0
JPH1 junctophilin 1 5.0
BAG3 BCL2-associated athanogene 3 5.0
TUBB3 tubulin, beta 3 class III 5.0
ARHGEF10 Rho guanine nucleotide exchange factor (GEF) 10 5.0
DCTN2 dynactin 2 (p50) 5.0
SCN9A sodium channel, voltage gated, type IX alpha subunit 5.0
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 5.0
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 5.0
PHOX2A paired-like homeobox 2a 5.0
TRPV4 transient receptor potential cation channel, subfamily V, member 4 4.0
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 4.0
GAN gigaxonin 4.0
RAPSN receptor-associated protein of the synapse 4.0
PRICKLE3 prickle homolog 3 (Drosophila) 4.0
ATP11A ATPase, class VI, type 11A 4.0
JAG1 jagged 1 4.0
CHRND cholinergic receptor, nicotinic, delta (muscle) 4.0
CHRNE cholinergic receptor, nicotinic, epsilon (muscle) 4.0
FGD4 FYVE, RhoGEF and PH domain containing 4 4.0
GFPT1 glutamine--fructose-6-phosphate transaminase 1 4.0
SLC5A6 solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 4.0
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1 4.0
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7 4.0
MED25 mediator complex subunit 25 4.0
SNAP29 synaptosomal-associated protein, 29kDa 4.0
RTN2 reticulon 2 4.0
CCT5 chaperonin containing TCP1, subunit 5 (epsilon) 4.0
WNK1 WNK lysine deficient protein kinase 1 4.0
MUSK muscle, skeletal, receptor tyrosine kinase 4.0
LITAF lipopolysaccharide-induced TNF factor 4.0
COA7 cytochrome c oxidase assembly factor 7 (putative) 4.0
PRX periaxin 4.0
NUDT2 nudix (nucleoside diphosphate linked moiety X)-type motif 2 4.0
GJB1 gap junction protein, beta 1, 32kDa 4.0
PSMC3 proteasome (prosome, macropain) 26S subunit, ATPase, 3 4.0
SNAP25 synaptosomal-associated protein, 25kDa 4.0
VRK1 vaccinia related kinase 1 4.0
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1) 4.0
FDXR ferredoxin reductase 4.0
FBLN5 fibulin 5 4.0
GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 4.0
SLC25A46 solute carrier family 25, member 46 4.0
PRICKLE2 prickle homolog 2 (Drosophila) 4.0
DNM2 dynamin 2 4.0
SPTAN1 spectrin, alpha, non-erythrocytic 1 4.0
CADM3 cell adhesion molecule 3 4.0
DNAJC30 DnaJ (Hsp40) homolog, subfamily C, member 30 4.0
MCM3AP minichromosome maintenance complex component 3 associated protein 4.0
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial 4.0
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 4.0
TMEM43 transmembrane protein 43 4.0
TTR transthyretin 4.0
OTOF otoferlin 4.0
TWNK twinkle mtDNA helicase 4.0
WARS1 tryptophanyl-tRNA synthetase 1 4.0
GARS1 glycyl-tRNA synthetase 1 4.0
RETREG1 reticulophagy regulator 1 4.0
ELP1 elongator acetyltransferase complex subunit 1 4.0
KARS1 lysyl-tRNA synthetase 1 4.0
HARS1 histidyl-tRNA synthetase 1 4.0
MARS1 methionyl-tRNA synthetase 1 4.0
YARS1 tyrosyl-tRNA synthetase 1 4.0
AARS1 alanyl-tRNA synthetase 1 4.0
DOK7 docking protein 7 4.0
COL13A1 collagen, type XIII, alpha 1 4.0
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 4.0
HINT1 histidine triad nucleotide binding protein 1 4.0
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) 4.0
GBE1 glucan (1,4-alpha-), branching enzyme 1 4.0
DMXL2 Dmx-like 2 4.0
DNAJC3 DnaJ (Hsp40) homolog, subfamily C, member 3 4.0
NDRG1 N-myc downstream regulated 1 4.0
UQCRC1 ubiquinol-cytochrome c reductase core protein I 4.0
FIG4 FIG4 phosphoinositide 5-phosphatase 4.0
SCN4A sodium channel, voltage gated, type IV alpha subunit 4.0
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 4.0
PMP22 peripheral myelin protein 22 4.0
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3 4.0
ABHD12 abhydrolase domain containing 12 4.0
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6 4.0
SH3TC2 SH3 domain and tetratricopeptide repeats 2 4.0
MYH14 myosin, heavy chain 14, non-muscle 4.0
DGUOK deoxyguanosine kinase 4.0
MTMR2 myotubularin related protein 2 4.0
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5 4.0
SIGMAR1 sigma non-opioid intracellular receptor 1 4.0
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) 4.0
DHX16 DEAH (Asp-Glu-Ala-His) box polypeptide 16 4.0
DNMT1 DNA (cytosine-5-)-methyltransferase 1 4.0
POLR3B polymerase (RNA) III (DNA directed) polypeptide B 4.0
CNTNAP1 contactin associated protein 1 4.0
DCAF8 DDB1 and CUL4 associated factor 8 4.0
SCN11A sodium channel, voltage gated, type XI alpha subunit 4.0
RFC1 replication factor C (activator 1) 1, 145kDa 4.0
TFG TRK-fused gene 4.0
ACOX1 acyl-CoA oxidase 1, palmitoyl 4.0
LMNA lamin A/C 4.0
PMP2 peripheral myelin protein 2 4.0
NGF nerve growth factor (beta polypeptide) 4.0
MORC2 MORC family CW-type zinc finger 2 4.0
FBXO38 F-box protein 38 4.0
PREPL prolyl endopeptidase-like 4.0
SPTBN4 spectrin, beta, non-erythrocytic 4 4.0
FLVCR1 feline leukemia virus subgroup C cellular receptor 1 4.0
SPG11 spastic paraplegia 11 (autosomal recessive) 4.0
COX6A1 cytochrome c oxidase subunit VIa polypeptide 1 4.0
DIAPH3 diaphanous-related formin 3 4.0
TECPR2 tectonin beta-propeller repeat containing 2 4.0
TYMP thymidine phosphorylase 4.0
AP1S1 adaptor-related protein complex 1, sigma 1 subunit 4.0
TRIM2 tripartite motif containing 2 4.0
ALG2 ALG2, alpha-1,3/1,6-mannosyltransferase 4.0
PDXK pyridoxal (pyridoxine, vitamin B6) kinase 4.0
ATP7A ATPase, Cu++ transporting, alpha polypeptide 4.0
SYT2 synaptotagmin II 4.0
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3 4.0
KLC2 kinesin light chain 2 4.0
DCTN1 dynactin 1 4.0
LRP4 low density lipoprotein receptor-related protein 4 4.0
VWA1 von Willebrand factor A domain containing 1 4.0
DST dystonin 4.0
EMILIN1 elastin microfibril interfacer 1 4.0
INF2 inverted formin, FH2 and WH2 domain containing 4.0
EGR2 early growth response 2 4.0
GDAP1 ganglioside induced differentiation associated protein 1 4.0
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle) 4.0
HK1 hexokinase 1 4.0
PDK3 pyruvate dehydrogenase kinase, isozyme 3 4.0
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 4.0
SURF1 surfeit 1 4.0
MYO9A myosin IXA 4.0
RRM2B ribonucleotide reductase M2 B (TP53 inducible) 4.0
DHTKD1 dehydrogenase E1 and transketolase domain containing 1 4.0
SORD sorbitol dehydrogenase 4.0
APOA1 apolipoprotein A-I 4.0
NEFH neurofilament, heavy polypeptide 4.0
NEFL neurofilament, light polypeptide 4.0
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle) 4.0
PRPS1 phosphoribosyl pyrophosphate synthetase 1 4.0
ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide 4.0
LRSAM1 leucine rich repeat and sterile alpha motif containing 1 4.0
COQ7 coenzyme Q7 homolog, ubiquinone (yeast) 4.0
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 4.0
SBF2 SET binding factor 2 4.0
SBF1 SET binding factor 1 4.0
PRDM12 PR domain containing 12 4.0
NEMF nuclear export mediator factor 4.0
VCP valosin containing protein 4.0
KIF1B kinesin family member 1B 4.0
KIF1A kinesin family member 1A 4.0
NAGLU N-acetylglucosaminidase, alpha 4.0
ATL1 atlastin GTPase 1 4.0
ATL3 atlastin GTPase 3 4.0
MME membrane metallo-endopeptidase 4.0
AGRN agrin 4.0
MPV17 MpV17 mitochondrial inner membrane protein 4.0
RPIA ribose 5-phosphate isomerase A 4.0
HSPB8 heat shock 22kDa protein 8 4.0
HSPB1 heat shock 27kDa protein 1 4.0
IGHMBP2 immunoglobulin mu binding protein 2 4.0
CHAT choline O-acetyltransferase 4.0
REEP1 receptor accessory protein 1 4.0
POLG polymerase (DNA directed), gamma 4.0
RAB7A RAB7A, member RAS oncogene family 4.0
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4 4.0
ALG14 ALG14, UDP-N-acetylglucosaminyltransferase subunit 4.0
MFN2 mitofusin 2 4.0
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2 4.0
SPTLC1 serine palmitoyltransferase, long chain base subunit 1 4.0
SPTLC2 serine palmitoyltransferase, long chain base subunit 2 4.0
HSPB3 heat shock 27kDa protein 3 4.0