Motor Neuron Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A neurodegenerative disease that is located_in the motor neurones. (Human Disease Ontology, DOID_231)
External Link https://www.disgenet.org/browser/0/1/0/C0521659
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Genes

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

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ACHE acetylcholinesterase (Yt blood group)
ACTB actin, beta
AGTPBP1 ATP/GTP binding protein 1
AIF1 allograft inflammatory factor 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANG angiogenin, ribonuclease, RNase A family, 5
ANXA1 annexin A1
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
APRT adenine phosphoribosyltransferase
AR androgen receptor
ARHGEF28 Rho guanine nucleotide exchange factor (GEF) 28
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATL1 atlastin GTPase 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN2 ataxin 2
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C19ORF12 chromosome 19 open reading frame 12
C9ORF72 chromosome 9 open reading frame 72
CASC1 cancer susceptibility candidate 1
CAST calpastatin
CASZ1 castor zinc finger 1
CAT catalase
CDCA5 cell division cycle associated 5
CDK5 cyclin-dependent kinase 5
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2
CHMP2B charged multivesicular body protein 2B
CLEC10A C-type lectin domain family 10, member A
CNTF ciliary neurotrophic factor
COL17A1 collagen, type XVII, alpha 1
COX1
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CSTB cystatin B (stefin B)
CTF1 cardiotrophin 1
DCDC2 doublecortin domain containing 2
DCTN1 dynactin 1
DCTN4 dynactin 4 (p62)
DDX20 DEAD (Asp-Glu-Ala-Asp) box polypeptide 20
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DSP desmoplakin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EPHA4 EPH receptor A4
ERBB2 erb-b2 receptor tyrosine kinase 2
EXOSC3 exosome component 3
FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP1A FK506 binding protein 1A, 12kDa
FOXO3 forkhead box O3
FUS FUS RNA binding protein
GAL3ST1 galactose-3-O-sulfotransferase 1
GAP43 growth associated protein 43
GCHFR GTP cyclohydrolase I feedback regulator
GDNF glial cell derived neurotrophic factor
GEMIN2 gem (nuclear organelle) associated protein 2
GEMIN6 gem (nuclear organelle) associated protein 6
GFAP glial fibrillary acidic protein
GFRA1 GDNF family receptor alpha 1
GH1 growth hormone 1
GJD2 gap junction protein, delta 2, 36kDa
GLE1 GLE1 RNA export mediator
GLRX glutaredoxin (thioltransferase)
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRM2 glutamate receptor, metabotropic 2
GRN granulin
GSTK1 glutathione S-transferase kappa 1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
HDAC6 histone deacetylase 6
HEXB hexosaminidase B (beta polypeptide)
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HK2 hexokinase 2
HLA-A major histocompatibility complex, class I, A
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1
HNRNPA3 heterogeneous nuclear ribonucleoprotein A3
HP haptoglobin
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
IGF1 insulin-like growth factor 1 (somatomedin C)
IGFALS insulin-like growth factor binding protein, acid labile subunit
IGHMBP2 immunoglobulin mu binding protein 2
IL12A interleukin 12A
INS insulin
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KIF1B kinesin family member 1B
LAS1L LAS1-like (S. cerevisiae)
LCN2 lipocalin 2
LOC105375355 uroplakin-3b
LRRK2 leucine-rich repeat kinase 2
LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)
LY6E lymphocyte antigen 6 complex, locus E
MAPT microtubule-associated protein tau
MFAP1 microfibrillar-associated protein 1
MFN2 mitofusin 2
MNAT1 MNAT CDK-activating kinase assembly factor 1
MT3 metallothionein 3
NAIP NLR family, apoptosis inhibitory protein
NEFH neurofilament, heavy polypeptide
NEFL neurofilament, light polypeptide
NEFM neurofilament, medium polypeptide
NEK1 NIMA-related kinase 1
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NOP56 NOP56 ribonucleoprotein
NOX1 NADPH oxidase 1
NRG1 neuregulin 1
NT5E 5'-nucleotidase, ecto (CD73)
NUP62 nucleoporin 62kDa
OGA O-GlcNAcase
OPTN optineurin
PABPC1 poly(A) binding protein, cytoplasmic 1
PARK7 parkinson protein 7
PFN1 profilin 1
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLS1 plastin 1
PNPLA6 patatin-like phospholipase domain containing 6
PON1 paraoxonase 1
PPP1R15A protein phosphatase 1, regulatory subunit 15A
PQBP1 polyglutamine binding protein 1
PRDX3 peroxiredoxin 3
PRPH peripherin
PSEN1 presenilin 1
PVR poliovirus receptor
RAB5A RAB5A, member RAS oncogene family
RAN RAN, member RAS oncogene family
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1
RHOT1 ras homolog family member T1
RNASE1 ribonuclease, RNase A family, 1 (pancreatic)
RPS6 ribosomal protein S6
RRAD Ras-related associated with diabetes
S100B S100 calcium binding protein B
SARM1 sterile alpha and TIR motif containing 1
SCAF11 SR-related CTD-associated factor 11
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SETX senataxin
SIGMAR1 sigma non-opioid intracellular receptor 1
SIRT1 sirtuin 1
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC9A3R2 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNCG synuclein, gamma (breast cancer-specific protein 1)
SNRPN small nuclear ribonucleoprotein polypeptide N
SNURF SNRPN upstream reading frame
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SOS1 son of sevenless homolog 1 (Drosophila)
SPAST spastin
SQSTM1 sequestosome 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STMN1 stathmin 1
SYNE1 spectrin repeat containing, nuclear envelope 1
TARDBP TAR DNA binding protein
TBCE tubulin folding cofactor E
TBK1 TANK-binding kinase 1
TECPR2 tectonin beta-propeller repeat containing 2
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TIGAR TP53 induced glycolysis regulatory phosphatase
TMED9 transmembrane emp24 protein transport domain containing 9
TMEM106B transmembrane protein 106B
TNF tumor necrosis factor
TNFRSF25 tumor necrosis factor receptor superfamily, member 25
TP53 tumor protein p53
TPPP tubulin polymerization promoting protein
TREM2 triggering receptor expressed on myeloid cells 2
UBQLN1 ubiquilin 1
UBQLN2 ubiquilin 2
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
VIM vimentin
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1
ZEB2 zinc finger E-box binding homeobox 2