Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4803
Gene Symbol: NGF
NGF
0.010 Biomarker disease BEFREE Brain-derived neurotrophic factor (BDNF) is a nerve growth factor associated with neuronal survival, synaptic plasticity, elevated transcranial Doppler (TCD) velocities and increased risk of stroke in patients with SCD. 31736231 2020
Entrez Id: 116519
Gene Symbol: APOA5
APOA5
0.010 GeneticVariation disease BEFREE Polymorphisms in genes that affect the variation of lipid levels in a Brazilian pediatric population with sickle cell disease: rs662799 APOA5 and rs964184 ZPR1. 31670185 2020
Entrez Id: 8882
Gene Symbol: ZPR1
ZPR1
0.010 GeneticVariation disease BEFREE The G-risk allele rs964184/ZPRI ZNF259/ZPR1 gene (GC + GG genotypes) was associated with increased levels of TG in children ≥10 years old (p = 0.045) and the atherogenic ratio TG/HDL-C (p = 0.032) in SCD. 31670185 2020
Entrez Id: 627
Gene Symbol: BDNF
BDNF
0.010 AlteredExpression disease BEFREE BDNF levels significantly increased over time in SCD participants. 31736231 2020
Entrez Id: 9780
Gene Symbol: PIEZO1
PIEZO1
0.010 Biomarker disease BEFREE Here we give an overview of Ca<sup>2+</sup> channels and Ca<sup>2+</sup>-regulated channels in red blood cells, namely the Gárdos channel, the non-selective voltage dependent cation channel, Piezo1, the NMDA receptor, VDAC, TRPC channels, Ca<sub>V</sub>2.1, a Ca<sup>2+</sup>-inhibited channel novel to red blood cells and i.a. relate these channels to the molecular unknown sickle cell disease conductance P<sub>sickle</sub>. 31646528 2020
Entrez Id: 1398
Gene Symbol: CRK
CRK
0.010 Biomarker disease BEFREE <b>Materials and methods:</b> Humanized mouse model with SCD defined as moderate- and non-responders to EA were intraperitoneally administered with antagonist of SP receptor NK1R (netupitant, 10 mg/kg/day, i.p.) or p38 MAPK inhibitor (SB203580, 10 mg/kg/day, i.p.) alone or in combination with EA (acupoint GB30, every 3rd day until day 12). 31447579 2019
Entrez Id: 26762
Gene Symbol: HAVCR1
HAVCR1
0.010 Biomarker disease BEFREE Novel biomarkers of renal function, such as kidney injury molecule 1 (KIM-1), and neutrophil gelatinase-associated lipocalin (NGAL) and monocyte chemoattractant protein 1 (MCP-1) are being studied in order to enable early diagnosis of kidney damage in SCD. 31641850 2019
Entrez Id: 1365
Gene Symbol: CLDN3
CLDN3
0.010 AlteredExpression disease BEFREE Antibiotic treatment rescued increased intestinal inflammatory cytokine marker genes (Tnfα, IL17, Ifnγ) expression, rescued decreased intestinal barrier marker genes (claudin 3 and claudin 15) expression, and rescued increased serum cytokines (IFNγ, IL27, IL10) in SCD mice. 31209247 2019
Entrez Id: 3859
Gene Symbol: KRT12
KRT12
0.010 Biomarker disease BEFREE We are beginning to see its application in gene manipulation of sickle cell disease, human immunodeficiency virus resistant embryologic twin gene modification and IBD genes such as Gatm (Glycine amidinotransferase, mitochondrial), nucleotide-binding oligomerization domain-containing protein 2, KRT12 and other genes implicated in adaptive immune convergence pathways have been subjected to gene editing, however there are very few publications. 31143069 2019
Entrez Id: 5031
Gene Symbol: P2RY6
P2RY6
0.010 Biomarker disease BEFREE Coadministration of a P2Y6 receptor antagonist blocked the effect of PGE<sub>2</sub>-G, indicating that this receptor is a mediator of pain in SCD. 30796025 2019
Entrez Id: 1121
Gene Symbol: CHM
CHM
0.010 Biomarker disease BEFREE Hydroxyurea to lower TCD velocities and prevent primary stroke: the Uganda NOHARM sickle cell anemia cohort. 31649130 2019
Entrez Id: 3383
Gene Symbol: ICAM1
ICAM1
0.010 AlteredExpression disease BEFREE We observed that long-term (5.5 months) oral treatment with pyridoxamine significantly diminished the adhesive function of neutrophils and platelets and down-regulated the expression of E-selectin and intercellular adhesion molecule-1 on the vascular endothelium in tumor necrosis factor-α-challenged sickle cell disease mice. 31672902 2019
Entrez Id: 268
Gene Symbol: AMH
AMH
0.010 Biomarker disease BEFREE The proportion of women with AMH > 20 pmol/l was significantly lower in the SCD group (6%) in comparison with the control group (19%) (P = 0.04). 30794713 2019
Entrez Id: 9372
Gene Symbol: ZFYVE9
ZFYVE9
0.010 Biomarker disease BEFREE Gait analysis by triaxial accelerometers will be complementary to the evaluation of scales like SARA in the assessment of clinical severity of SCD patients in early stage. 30993540 2019
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
0.010 GeneticVariation disease BEFREE Selective depletion of PMos in Townes sickle mice exacerbated vascular stasis and tissue damage, whereas treatment with muramyl dipeptide (NOD2 ligand), which increases PMo mass, reduced stasis and SCD associated organ damage. 31076443 2019
Entrez Id: 2108
Gene Symbol: ETFA
ETFA
0.010 Biomarker disease BEFREE Hydroxyurea (HU) is a FDA- and EMA-approved drug that earned an important place in the treatment of patients with severe sickle cell anemia (SCA) by showing its efficacy in many studies. 31623213 2019
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
0.010 Biomarker disease BEFREE This case suggests that ABCC6 testing is warranted for sickle cell disease patients with the PXE-like phenotype and that the pathogenesis of PXE manifestations in beta-thalassemia and sickle cell disease may differ. 30537162 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
0.010 Biomarker disease BEFREE Frequency of Interleukins IL1ß/IL18 and Inflammasome NLRP1/NLRP3 Polymorphisms in Sickle Cell Anemia Patients and their Association with Severity Score. 31448710 2019
Entrez Id: 9966
Gene Symbol: TNFSF15
TNFSF15
0.010 AlteredExpression disease BEFREE TNFSF/TNFRSF cytokine gene expression in sickle cell anemia: Up-regulated TNF-like cytokine 1A (TL1A) and its decoy receptor (DcR3) in peripheral blood mononuclear cells and plasma. 31255916 2019
Entrez Id: 8771
Gene Symbol: TNFRSF6B
TNFRSF6B
0.010 AlteredExpression disease BEFREE TNFSF/TNFRSF cytokine gene expression in sickle cell anemia: Up-regulated TNF-like cytokine 1A (TL1A) and its decoy receptor (DcR3) in peripheral blood mononuclear cells and plasma. 31255916 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.010 Biomarker disease BEFREE We included 768 patients (194 with subjective cognitive decline (SCD), 127 mild cognitive impairment (MCI), 309 Alzheimer's dementia (AD), and 138 non-AD) who were categorized as concordant-negative (n = 315, 41%), discordant (n = 97, 13%), or concordant-positive (n = 356, 46%) based on CSF and PET results. 31511058 2019
Entrez Id: 9402
Gene Symbol: GRAP2
GRAP2
0.010 Biomarker disease BEFREE <b>Materials and methods:</b> Humanized mouse model with SCD defined as moderate- and non-responders to EA were intraperitoneally administered with antagonist of SP receptor NK1R (netupitant, 10 mg/kg/day, i.p.) or p38 MAPK inhibitor (SB203580, 10 mg/kg/day, i.p.) alone or in combination with EA (acupoint GB30, every 3rd day until day 12). 31447579 2019
Entrez Id: 978
Gene Symbol: CDA
CDA
0.010 Biomarker disease BEFREE However, these compounds are rapidly degraded by cytidine deaminase when taken by oral administration, creating a critical barrier to clinical development for SCD. 30891745 2019
Entrez Id: 9582
Gene Symbol: APOBEC3B
APOBEC3B
0.010 Biomarker disease BEFREE However, these compounds are rapidly degraded by cytidine deaminase when taken by oral administration, creating a critical barrier to clinical development for SCD. 30891745 2019
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.010 AlteredExpression disease BEFREE Fluorine-18-FDG PET/CT completes the whole-body assessment with an integrated multimodal approach with high spatial resolution that evaluates the metabolic activity and the standardized uptake value (SUV) in SCD patients. 30843001 2019