Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.010 Biomarker disease BEFREE For example, diclofenac from a transdermal patch over the back of neck should readily penetrate the dura mater to reach the CSF and brain; since the analgesic ziconotide, and antisense molecules for treating spinal muscular atrophy in children and Huntington's disease, are delivered intrathecally and readily enter the brain. 30721650 2019
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
0.010 AlteredExpression disease BEFREE Baseline levels of NFL (4598 ± 981 vs 148 ± 39, P = 0.001), tau (939 ± 159 vs 404 ± 86, P = 0.02), and GFAP (236 ± 44 vs 108 ± 26, P = 0.02) were significantly higher in SMA children than controls. 31123861 2019
Entrez Id: 8099
Gene Symbol: CDK2AP1
CDK2AP1
0.010 GeneticVariation disease BEFREE Methylation profiles of CpG islands within the SLC23A2, CDK2AP1, and DYNC1H1 genes and their association with spinal muscular atrophy (SMA) severity were studied. 30246859 2019
Entrez Id: 115482723
Gene Symbol: H3P40
H3P40
0.010 PosttranslationalModification disease BEFREE Finally, we uncovered that β2-adrenergic signaling positively modulates expression as well as phosphorylation of p50 and p65 in SMA mouse DRGs. 31019235 2019
Entrez Id: 6362
Gene Symbol: CCL18
CCL18
0.010 Biomarker disease BEFREE Additionally, CCL18 was elevated in LoS serum, and not in (juvenile) dermatomyositis or spinal muscular atrophy. 31006523 2019
Entrez Id: 4294
Gene Symbol: MAP3K10
MAP3K10
0.010 Biomarker disease BEFREE Taken together, our study identifies a novel link between NCALD and adult neurogenesis in the hippocampus, possibly <i>via</i> a MAP3K10-JNK pathway and emphasizes the safety of using NCALD reduction as a therapeutic option for SMA. 30853885 2019
Entrez Id: 8874
Gene Symbol: ARHGEF7
ARHGEF7
0.010 PosttranslationalModification disease BEFREE Finally, we uncovered that β2-adrenergic signaling positively modulates expression as well as phosphorylation of p50 and p65 in SMA mouse DRGs. 31019235 2019
Entrez Id: 407010
Gene Symbol: MIR23A
MIR23A
0.010 Biomarker disease BEFREE These experiments demonstrate that miR-23a is a novel protective modifier of SMA, warranting further characterization of miRNA dysfunction in SMA. 31211843 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.010 Biomarker disease BEFREE Immunohistochemistry results were as follows: S-100 (+), CD117 (-), SMA (-), and Desmin (-). 31192973 2019
Entrez Id: 64689
Gene Symbol: GORASP1
GORASP1
0.010 PosttranslationalModification disease BEFREE Finally, we uncovered that β2-adrenergic signaling positively modulates expression as well as phosphorylation of p50 and p65 in SMA mouse DRGs. 31019235 2019
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
0.010 AlteredExpression disease BEFREE Given the upregulation of UCHL1 in denervation and spinal muscle atrophy, our finding advances understanding of regulators that are involved in muscle wasting. 31356902 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.010 Biomarker disease BEFREE For example, diclofenac from a transdermal patch over the back of neck should readily penetrate the dura mater to reach the CSF and brain; since the analgesic ziconotide, and antisense molecules for treating spinal muscular atrophy in children and Huntington's disease, are delivered intrathecally and readily enter the brain. 30721650 2019
Entrez Id: 154
Gene Symbol: ADRB2
ADRB2
0.010 AlteredExpression disease BEFREE Moreover, we revealed that plasma norepinephrine levels are elevated in SMA mice, which contributes to mechanical hypersensitivity via the β2-adrenergic receptor. 31019235 2019
Entrez Id: 4155
Gene Symbol: MBP
MBP
0.010 AlteredExpression disease BEFREE We investigated the expression of myelin basic protein (MBP) and NG2, which are OL lineage markers, using SMNΔ7 mice (mSmn, SMN2, SMNΔ7) and cell cultures derived from induced pluripotent stem cells generated from SMA patients. 30724851 2019
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
0.010 PosttranslationalModification disease BEFREE Finally, we uncovered that β2-adrenergic signaling positively modulates expression as well as phosphorylation of p50 and p65 in SMA mouse DRGs. 31019235 2019
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
0.010 GeneticVariation disease BEFREE An optimized variant of SRK-015P, SRK-015, is currently in clinical development for treatment of SMA. 30481286 2019
Entrez Id: 958
Gene Symbol: CD40
CD40
0.010 PosttranslationalModification disease BEFREE Finally, we uncovered that β2-adrenergic signaling positively modulates expression as well as phosphorylation of p50 and p65 in SMA mouse DRGs. 31019235 2019
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
0.010 Biomarker disease BEFREE After a single bout of exercise, canonical responses such as skeletal muscle AMP-activated protein kinase (AMPK), p38 mitogen-activated protein kinase (p38) and peroxisome proliferator-activated receptor γ coactivator 1α (PGC-1α) activation were preserved in SMA-like Smn<sup>2B/-</sup> animals. 31361024 2019
Entrez Id: 5970
Gene Symbol: RELA
RELA
0.010 PosttranslationalModification disease BEFREE Finally, we uncovered that β2-adrenergic signaling positively modulates expression as well as phosphorylation of p50 and p65 in SMA mouse DRGs. 31019235 2019
Entrez Id: 65125
Gene Symbol: WNK1
WNK1
0.010 PosttranslationalModification disease BEFREE Finally, we uncovered that β2-adrenergic signaling positively modulates expression as well as phosphorylation of p50 and p65 in SMA mouse DRGs. 31019235 2019
Entrez Id: 2043
Gene Symbol: EPHA4
EPHA4
0.010 Biomarker disease BEFREE Our data suggest that either lowering EphA4 has limited therapeutic potential in SMA or that the clinical severity hampers the potential beneficial role of EphA4 reduction in this mouse model for SMA. 31803009 2019
Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
0.010 PosttranslationalModification disease BEFREE Finally, we uncovered that β2-adrenergic signaling positively modulates expression as well as phosphorylation of p50 and p65 in SMA mouse DRGs. 31019235 2019
Entrez Id: 4744
Gene Symbol: NEFH
NEFH
0.010 Biomarker disease BEFREE Neurofilament Heavy Chain and Tau Protein Are Not Elevated in Cerebrospinal Fluid of Adult Patients with Spinal Muscular Atrophy during Loading with Nusinersen. 31671515 2019
Entrez Id: 836
Gene Symbol: CASP3
CASP3
0.010 AlteredExpression disease BEFREE In addition, the expression level of cleaved-caspase 3 was decreased by levetiracetam in SMA-iPSCs-MNs. 31102025 2019
Entrez Id: 1390
Gene Symbol: CREM
CREM
0.010 Biomarker disease BEFREE Spinal Muscular Atrophy Therapies: ICER Grounds the Price to Value Conversation in Facts. 31778615 2019