Motor Neuron Atrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Wasting involving the motor neuron. (Human Phenotype Ontology, HP_0007373)
External Link https://www.disgenet.org/browser/0/1/0/C4024896
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Genes

133 genes associated with the disease Motor Neuron Atrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
AGTPBP1 ATP/GTP binding protein 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
AQP4 aquaporin 4
AR androgen receptor
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN1 ataxin 1
BCL2 B-cell CLL/lymphoma 2
BICD2 bicaudal D homolog 2 (Drosophila)
BRD4 bromodomain containing 4
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C9ORF72 chromosome 9 open reading frame 72
CAP1 CAP, adenylate cyclase-associated protein 1 (yeast)
CCDC88A coiled-coil domain containing 88A
CCL2 chemokine (C-C motif) ligand 2
CDK5 cyclin-dependent kinase 5
CHIT1 chitinase 1 (chitotriosidase)
CHODL chondrolectin
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CNGA3 cyclic nucleotide gated channel alpha 3
CNR2 cannabinoid receptor 2 (macrophage)
CNTF ciliary neurotrophic factor
CSNK1E casein kinase 1, epsilon
CST3 cystatin C
CXCR4 chemokine (C-X-C motif) receptor 4
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DCTN1 dynactin 1
DCTN4 dynactin 4 (p62)
DDX20 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20
DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DERL1 derlin 1
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EEF1A1 eukaryotic translation elongation factor 1 alpha 1
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
ELP3 elongator acetyltransferase complex subunit 3
ENDOU endonuclease, polyU-specific
EPHA4 EPH receptor A4
ERBB4 erb-b2 receptor tyrosine kinase 4
ERLIN2 ER lipid raft associated 2
EXOSC3 exosome component 3
EXOSC6 exosome component 6
F2R coagulation factor II (thrombin) receptor
FIG4 FIG4 phosphoinositide 5-phosphatase
FUS FUS RNA binding protein
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GARS glycyl-tRNA synthetase
GDNF glial cell derived neurotrophic factor
GPNMB glycoprotein (transmembrane) nmb
GRN granulin
GSK3B glycogen synthase kinase 3 beta
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
HACD1 3-hydroxyacyl-CoA dehydratase 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMOX1 heme oxygenase 1
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
HTRA2 HtrA serine peptidase 2
IGF1 insulin-like growth factor 1 (somatomedin C)
IGFALS insulin-like growth factor binding protein, acid labile subunit
IGHMBP2 immunoglobulin mu binding protein 2
IMMT inner membrane protein, mitochondrial
KCNK3 potassium channel, two pore domain subfamily K, member 3
KEAP1 kelch-like ECH-associated protein 1
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KIF1A kinesin family member 1A
KLC1 kinesin light chain 1
LNPEP leucyl/cystinyl aminopeptidase
LOC400927-CSNK1E LOC400927-CSNK1E readthrough
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4
MAPT microtubule-associated protein tau
MCM3AP minichromosome maintenance complex component 3 associated protein
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MDM4 MDM4, p53 regulator
MLKL mixed lineage kinase domain-like
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYOG myogenin (myogenic factor 4)
NAIP NLR family, apoptosis inhibitory protein
NEFH neurofilament, heavy polypeptide
NEFL neurofilament, light polypeptide
NES nestin
NFE2L2 nuclear factor, erythroid 2-like 2
NOP56 NOP56 ribonucleoprotein
NSFL1C NSFL1 (p97) cofactor (p47)
NUP62 nucleoporin 62kDa
OPTN optineurin
PAWR PRKC, apoptosis, WT1, regulator
PFN1 profilin 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLA1A phospholipase A1 member A
PNPLA6 patatin-like phospholipase domain containing 6
PPIA peptidylprolyl isomerase A (cyclophilin A)
PRNP prion protein
PRPH peripherin
PSAP prosaposin
RAE1 ribonucleic acid export 1
RBM28 RNA binding motif protein 28
S100A10 S100 calcium binding protein A10
SARM1 sterile alpha and TIR motif containing 1
SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SETX senataxin
SIRT1 sirtuin 1
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SNRPN small nuclear ribonucleoprotein polypeptide N
SNURF SNRPN upstream reading frame
SOD1 superoxide dismutase 1, soluble
SORBS1 sorbin and SH3 domain containing 1
SPG11 spastic paraplegia 11 (autosomal recessive)
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
STMN1 stathmin 1
SYNCRIP synaptotagmin binding, cytoplasmic RNA interacting protein
TARDBP TAR DNA binding protein
TFG TRK-fused gene
TMEM41B transmembrane protein 41B
TP53 tumor protein p53
TUSC2 tumor suppressor candidate 2
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
VEGFB vascular endothelial growth factor B
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
ZNF106 zinc finger protein 106