peripheral neuropathy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A neuropathy that is located_in nerves of the peripheral nervous system. (Human Disease Ontology, DOID_0060053)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009830
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Genes

301 genes associated with the peripheral neuropathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
AARS alanyl-tRNA synthetase
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABHD12 abhydrolase domain containing 12
ACO2 aconitase 2, mitochondrial
AFG3L2 AFG3-like AAA ATPase 2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGXT alanine-glyoxylate aminotransferase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIP aryl hydrocarbon receptor interacting protein
ALAD aminolevulinate dehydratase
AMACR alpha-methylacyl-CoA racemase
AMN amnion associated transmembrane protein
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
APOA1 apolipoprotein A-I
APP amyloid beta (A4) precursor protein
APTX aprataxin
AR androgen receptor
ARSA arylsulfatase A
ATL1 atlastin GTPase 1
ATL3 atlastin GTPase 3
ATP13A2 ATPase type 13A2
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATXN1 ataxin 1
ATXN2 ataxin 2
ATXN3 ataxin 3
ATXN8 ataxin 8
ATXN8OS ATXN8 opposite strand (non-protein coding)
BAG3 BCL2-associated athanogene 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C4A complement component 4A (Rodgers blood group)
CA2 carbonic anhydrase II
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CALR calreticulin
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CECR1 cat eye syndrome chromosome region, candidate 1
CISD2 CDGSH iron sulfur domain 2
CLCF1 cardiotrophin-like cytokine factor 1
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
COASY CoA synthase
COMP cartilage oligomeric matrix protein
COX1
COX2
COX3
CPOX coproporphyrinogen oxidase
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSC cathepsin C
CUBN cubilin (intrinsic factor-cobalamin receptor)
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DCAF8 DDB1 and CUL4 associated factor 8
DDHD1 DDHD domain containing 1
DGUOK deoxyguanosine kinase
DHH desert hedgehog
DNASE1L3 deoxyribonuclease I-like 3
DNM2 dynamin 2
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EDNRB endothelin receptor type B
EGR2 early growth response 2
ELOVL5 ELOVL fatty acid elongase 5
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM126A family with sequence similarity 126, member A
FAM134B family with sequence similarity 134, member B
FBN1 fibrillin 1
FGD4 FYVE, RhoGEF and PH domain containing 4
FGF14 fibroblast growth factor 14
FIG4 FIG4 phosphoinositide 5-phosphatase
FLII flightless I homolog (Drosophila)
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FUCA1 fucosidase, alpha-L- 1, tissue
FXN frataxin
GALC galactosylceramidase
GAN gigaxonin
GARS glycyl-tRNA synthetase
GBA2 glucosidase, beta (bile acid) 2
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCK glucokinase (hexokinase 4)
GCLC glutamate-cysteine ligase, catalytic subunit
GDAP1 ganglioside induced differentiation associated protein 1
GIF gastric intrinsic factor (vitamin B synthesis)
GJB1 gap junction protein, beta 1, 32kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLA galactosidase, alpha
GMPPA GDP-mannose pyrophosphorylase A
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
GPI glucose-6-phosphate isomerase
GSN gelsolin
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HBB hemoglobin, beta
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HINT1 histidine triad nucleotide binding protein 1
HK1 hexokinase 1
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HMBS hydroxymethylbilane synthase
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IGF2 insulin-like growth factor 2
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
INF2 inverted formin, FH2 and WH2 domain containing
INS insulin
INSR insulin receptor
JAK2 Janus kinase 2
KARS lysyl-tRNA synthetase
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KIAA0196 KIAA0196
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KIF5A kinesin family member 5A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
LARS2 leucyl-tRNA synthetase 2, mitochondrial
LDB3 LIM domain binding 3
LIFR leukemia inhibitory factor receptor alpha
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
LYST lysosomal trafficking regulator
MANBA mannosidase, beta A, lysosomal
MATR3 matrin 3
MED25 mediator complex subunit 25
MEFV Mediterranean fever
MFN2 mitofusin 2
MLH1 mutL homolog 1
MPC1 mitochondrial pyruvate carrier 1
MPL MPL proto-oncogene, thrombopoietin receptor
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MSH2 mutS homolog 2
MSH6 mutS homolog 6
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
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTMR2 myotubularin related protein 2
MYD88 myeloid differentiation primary response 88
MYOT myotilin
NAGA N-acetylgalactosaminidase, alpha-
ND1
NDN necdin, melanoma antigen (MAGE) family member
NDRG1 N-myc downstream regulated 1
NEFL neurofilament, light polypeptide
NF2 neurofibromin 2 (merlin)
NGF nerve growth factor (beta polypeptide)
NGLY1 N-glycanase 1
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH2 notch 2
NOTCH3 notch 3
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OPA1 optic atrophy 1 (autosomal dominant)
OSMR oncostatin M receptor
PDE4D phosphodiesterase 4D, cAMP-specific
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PDYN prodynorphin
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX7 peroxisomal biogenesis factor 7
PGM3 phosphoglucomutase 3
PHF6 PHD finger protein 6
PHYH phytanoyl-CoA 2-hydroxylase
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PMM2 phosphomannomutase 2
PMP22 peripheral myelin protein 22
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLG polymerase (DNA directed), gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
PPOX protoporphyrinogen oxidase
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRICKLE1 prickle homolog 1 (Drosophila)
PRICKLE2 prickle homolog 2 (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCG protein kinase C, gamma
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRRT2 proline-rich transmembrane protein 2
PRTN3 proteinase 3
PRX periaxin
PSAP prosaposin
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB7A RAB7A, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAI1 retinoic acid induced 1
REEP1 receptor accessory protein 1
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RNF170 ring finger protein 170
RPIA ribose 5-phosphate isomerase A
RTN2 reticulon 2
SACS sacsin molecular chaperone
SAR1B secretion associated, Ras related GTPase 1B
SBF1 SET binding factor 1
SBF2 SET binding factor 2
SCN11A sodium channel, voltage gated, type XI alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SEPT9 septin 9
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SERPINI1 serpin peptidase inhibitor, clade I (neuroserpin), member 1
SETX senataxin
SH2B3 SH2B adaptor protein 3
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIL1 SIL1 nucleotide exchange factor
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC30A10 solute carrier family 30, member 10
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNAP29 synaptosomal-associated protein, 29kDa
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX10 SRY (sex determining region Y)-box 10
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPTBN2 spectrin, beta, non-erythrocytic 2
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
STAT4 signal transducer and activator of transcription 4
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TBC1D20 TBC1 domain family, member 20
TBP TATA box binding protein
TDP1 tyrosyl-DNA phosphodiesterase 1
TET2 tet methylcytosine dioxygenase 2
TFG TRK-fused gene
THPO thrombopoietin
TLR4 toll-like receptor 4
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNXB tenascin XB
TP53 tumor protein p53
TPI1 triosephosphate isomerase 1
TPP1 tripeptidyl peptidase I
TRIM2 tripartite motif containing 2
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TUBB3 tubulin, beta 3 class III
TYMP thymidine phosphorylase
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
WAS Wiskott-Aldrich syndrome
WFS1 Wolfram syndrome 1 (wolframin)
WIPF1 WAS/WASL interacting protein family, member 1
YARS tyrosyl-tRNA synthetase
ZFYVE26 zinc finger, FYVE domain containing 26