als Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) (Experimental Factor Ontology, EFO_0000253)
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Genes

137 genes co-occuring with the biological term als in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ACE angiotensin I converting enzyme
ADARB1 adenosine deaminase, RNA-specific, B1
ADORA2A adenosine A2a receptor
AGER advanced glycosylation end product-specific receptor
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANG angiogenin, ribonuclease, RNase A family, 5
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
AR androgen receptor
ARHGEF28 Rho guanine nucleotide exchange factor (GEF) 28
ATXN1 ataxin 1
ATXN2 ataxin 2
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BDNF brain-derived neurotrophic factor
C3 complement component 3
C9ORF72 chromosome 9 open reading frame 72
CCL2 chemokine (C-C motif) ligand 2
CCR2 chemokine (C-C motif) receptor 2
CCS copper chaperone for superoxide dismutase
CHGA chromogranin A
CHGB chromogranin B
CHMP2B charged multivesicular body protein 2B
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CNTF ciliary neurotrophic factor
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CST3 cystatin C
CTSB cathepsin B
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DAO D-amino-acid oxidase
DCTN1 dynactin 1
DPP6 dipeptidyl-peptidase 6
ELAVL1 ELAV like RNA binding protein 1
EPHA3 EPH receptor A3
EPHA4 EPH receptor A4
EPO erythropoietin
EWSR1 EWS RNA-binding protein 1
FGF2 fibroblast growth factor 2 (basic)
FGFR1 fibroblast growth factor receptor 1
FGGY FGGY carbohydrate kinase domain containing
FIG4 FIG4 phosphoinositide 5-phosphatase
FLAD1 flavin adenine dinucleotide synthetase 1
FMO1 flavin containing monooxygenase 1
FMR1 fragile X mental retardation 1
FUS FUS RNA binding protein
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIN3B glutamate receptor, ionotropic, N-methyl-D-aspartate 3B
GRM5 glutamate receptor, metabotropic 5
GRN granulin
GSK3A glycogen synthase kinase 3 alpha
GSK3B glycogen synthase kinase 3 beta
HCRT hypocretin (orexin) neuropeptide precursor
HFE hemochromatosis
HMGB1 high mobility group box 1
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
HTRA2 HtrA serine peptidase 2
IFT74 intraflagellar transport 74
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IGFALS insulin-like growth factor binding protein, acid labile subunit
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IGFBP3 insulin-like growth factor binding protein 3
IGHMBP2 immunoglobulin mu binding protein 2
IL13 interleukin 13
KARS lysyl-tRNA synthetase
KDR kinase insert domain receptor
KIF1B kinesin family member 1B
KIF3A kinesin family member 3A
KIFAP3 kinesin-associated protein 3
LGALS3 lectin, galactoside-binding, soluble, 3
LOC643387 TAR DNA binding protein pseudogene
LOX lysyl oxidase
LRRK2 leucine-rich repeat kinase 2
MAPK14 mitogen-activated protein kinase 14
MAPT microtubule-associated protein tau
MATR3 matrin 3
MBL2 mannose-binding lectin (protein C) 2, soluble
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
NEFL neurofilament, light polypeptide
NFE2L2 nuclear factor, erythroid 2-like 2
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NOS1 nitric oxide synthase 1 (neuronal)
OPTN optineurin
PABPC1 poly(A) binding protein, cytoplasmic 1
PFN1 profilin 1
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
POLDIP3 polymerase (DNA-directed), delta interacting protein 3
PON1 paraoxonase 1
PON2 paraoxonase 2
POU5F1 POU class 5 homeobox 1
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPIA peptidylprolyl isomerase A (cyclophilin A)
PPP2R4 protein phosphatase 2A activator, regulatory subunit 4
PRPH peripherin
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RBM45 RNA binding motif protein 45
RET ret proto-oncogene
RNASE2 ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)
RTN4 reticulon 4
S100A6 S100 calcium binding protein A6
SETX senataxin
SH2B3 SH2B adaptor protein 3
SIGMAR1 sigma non-opioid intracellular receptor 1
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SMAD2 SMAD family member 2
SMAD3 SMAD family member 3
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SOD1 superoxide dismutase 1, soluble
SORT1 sortilin 1
SOX2 SRY (sex determining region Y)-box 2
SPAST spastin
SQSTM1 sequestosome 1
SREBF1 sterol regulatory element binding transcription factor 1
SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TAF15 TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa
TARDBP TAR DNA binding protein
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14
TNPO1 transportin 1
UBE2H ubiquitin-conjugating enzyme E2H
UBQLN2 ubiquilin 2
UNC13A unc-13 homolog A (C. elegans)
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VCP valosin containing protein
VEGFA vascular endothelial growth factor A
VGF VGF nerve growth factor inducible
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)