Amyotrophic Lateral Sclerosis Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. (Human Disease Ontology, DOID_332)
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Genes

189 genes associated with the Amyotrophic Lateral Sclerosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACTR5 ARP5 actin-related protein 5 homolog (yeast)
ADD1 adducin 1 (alpha)
ADRB2 adrenoceptor beta 2, surface
ADRB3 adrenoceptor beta 3
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
ALAD aminolevulinate dehydratase
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANG angiogenin, ribonuclease, RNase A family, 5
ANGPTL4 angiopoietin-like 4
ANK1 ankyrin 1, erythrocytic
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOA4 apolipoprotein A-IV
APOB apolipoprotein B
APOC3 apolipoprotein C-III
APOE apolipoprotein E
AR androgen receptor
ARHGAP18 Rho GTPase activating protein 18
ARHGEF28 Rho guanine nucleotide exchange factor (GEF) 28
ATXN1 ataxin 1
ATXN2 ataxin 2
C7ORF57 chromosome 7 open reading frame 57
C9ORF72 chromosome 9 open reading frame 72
CABIN1 calcineurin binding protein 1
CAMK1G calcium/calmodulin-dependent protein kinase IG
CAV1 caveolin 1, caveolae protein, 22kDa
CETP cholesteryl ester transfer protein, plasma
CHGB chromogranin B
CHMP2B charged multivesicular body protein 2B
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CLNK cytokine-dependent hematopoietic cell linker
CLU clusterin
CNTN4 contactin 4
CP ceruloplasmin (ferroxidase)
CR1 complement component (3b/4b) receptor 1 (Knops blood group)
CST3 cystatin C
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DCP1A decapping mRNA 1A
DCTN1 dynactin 1
DHFR dihydrofolate reductase
DPP6 dipeptidyl-peptidase 6
DPYD dihydropyrimidine dehydrogenase
DPYSL3 dihydropyrimidinase-like 3
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
ELP3 elongator acetyltransferase complex subunit 3
EPHA3 EPH receptor A3
EPO erythropoietin
EWSR1 EWS RNA-binding protein 1
EXOC4 exocyst complex component 4
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
FBXO8 F-box protein 8
FGB fibrinogen beta chain
FGGY FGGY carbohydrate kinase domain containing
FIG4 FIG4 phosphoinositide 5-phosphatase
FMO1 flavin containing monooxygenase 1
FMR1 fragile X mental retardation 1
FUS FUS RNA binding protein
FXN frataxin
GALNT1 polypeptide N-acetylgalactosaminyltransferase 1
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIK2 glutamate receptor, ionotropic, kainate 2
GRN granulin
GSS glutathione synthetase
GSTO1 glutathione S-transferase omega 1
GSTO2 glutathione S-transferase omega 2
HFE hemochromatosis
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HLA-B major histocompatibility complex, class I, B
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1
HNRNPA3 heterogeneous nuclear ribonucleoprotein A3
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HTT huntingtin
HUS1 HUS1 checkpoint homolog (S. pombe)
ICAM1 intercellular adhesion molecule 1
IFNK interferon, kappa
IL18BP interleukin 18 binding protein
INHBA inhibin, beta A
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2
KEAP1 kelch-like ECH-associated protein 1
KIAA0226L KIAA0226-like
KIFAP3 kinesin-associated protein 3
KRT18P55 keratin 18 pseudogene 55
LDLR low density lipoprotein receptor
LEP leptin
LIPC lipase, hepatic
LOC100506746 uncharacterized LOC100506746
LOX lysyl oxidase
LPA lipoprotein, Lp(a)
LPL lipoprotein lipase
LRRK2 leucine-rich repeat kinase 2
LTA lymphotoxin alpha
MACROD2 MACRO domain containing 2
MAN1A2 mannosidase, alpha, class 1A, member 2
MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3
MAPT microtubule-associated protein tau
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP1 matrix metallopeptidase 1
MMP12 matrix metallopeptidase 12
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MOB3B MOB kinase activator 3B
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT2A metallothionein 2A
MT3 metallothionein 3
MTF1 metal-regulatory transcription factor 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NELL1 NEL-like 1 (chicken)
NFE2L2 nuclear factor, erythroid 2-like 2
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NLGN1 neuroligin 1
NOP56 NOP56 ribonucleoprotein
NOS3 nitric oxide synthase 3 (endothelial cell)
NPPA natriuretic peptide A
OGG1 8-oxoguanine DNA glycosylase
OPTN optineurin
P4HB prolyl 4-hydroxylase, beta polypeptide
PCSK2 proprotein convertase subtilisin/kexin type 2
PDGFB platelet-derived growth factor beta polypeptide
PFN1 profilin 1
PGF placental growth factor
PICALM phosphatidylinositol binding clathrin assembly protein
PON1 paraoxonase 1
PON2 paraoxonase 2
PON3 paraoxonase 3
PPARG peroxisome proliferator-activated receptor gamma
PPM1K protein phosphatase, Mg2+/Mn2+ dependent, 1K
PRNP prion protein
PRPH peripherin
PSEN1 presenilin 1
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PVR poliovirus receptor
RECK reversion-inducing-cysteine-rich protein with kazal motifs
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SELE selectin E
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SH2B3 SH2B adaptor protein 3
SHROOM3 shroom family member 3
SIGMAR1 sigma non-opioid intracellular receptor 1
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SOD1 superoxide dismutase 1, soluble
SPP1 secreted phosphoprotein 1
SQSTM1 sequestosome 1
SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
STC1 stanniocalcin 1
STC2 stanniocalcin 2
SUN3 Sad1 and UNC84 domain containing 3
SUSD1 sushi domain containing 1
SUSD2 sushi domain containing 2
TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa
TARDBP TAR DNA binding protein
TGFB1 transforming growth factor, beta 1
TIAM1 T-cell lymphoma invasion and metastasis 1
TMEM106B transmembrane protein 106B
TNF tumor necrosis factor
TP53 tumor protein p53
TREM2 triggering receptor expressed on myeloid cells 2
TRPM7 transient receptor potential cation channel, subfamily M, member 7
TUBA4A tubulin, alpha 4a
TXNRD1 thioredoxin reductase 1
TYMP thymidine phosphorylase
UBE2H ubiquitin-conjugating enzyme E2H
UBQLN1 ubiquilin 1
UBQLN2 ubiquilin 2
UNC13A unc-13 homolog A (C. elegans)
UPF2 UPF2 regulator of nonsense transcripts homolog (yeast)
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
WNT10B wingless-type MMTV integration site family, member 10B
WNT5A wingless-type MMTV integration site family, member 5A
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
ZFP64 ZFP64 zinc finger protein
ZNF512B zinc finger protein 512B
ZNF519 zinc finger protein 519
ZNF704 zinc finger protein 704