Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 176
Gene Symbol: ACAN
ACAN
0.020 AlteredExpression disease BEFREE Compared with the control and blank groups, there was significantly higher cell viability, lower cell apoptosis, and higher COL2AL and Aggrecan levels in the TSLP-siRNA, anti-TSLPR, and TSLP-siRNA+TSLPR-siRNA groups; there were significant differences between the TSLP-siRNA, anti-TSLPR, and TSLP-siRNA+TSLPR-siRNA groups and IgG group (all P < .05) CONCLUSION:: Our study provides evidence for the hypothesis that TSLP could reflect the histological severity of LDD, and TSLP-siRNA and, TSLPR-siRNA could inhibit apoptosis of nucleus pulposus cells. 28746197 2017
Entrez Id: 176
Gene Symbol: ACAN
ACAN
0.020 GeneticVariation disease BEFREE The study investigated the associations of single nucleotide variants (SNVs) of candidate genes in the aggrecan metabolic pathway with the severity of LDD and Modic changes. 28081267 2017
Entrez Id: 9508
Gene Symbol: ADAMTS3
ADAMTS3
0.010 GeneticVariation disease BEFREE Rs4233367 (c.1877 C>T), which located in exon of ADAMTS-4 showed significant association with LDD. 26495885 2016
Entrez Id: 9507
Gene Symbol: ADAMTS4
ADAMTS4
0.020 GeneticVariation disease BEFREE The rs41270041 variant of the ADAMTS4 gene and the rs226794 variant of the ADAMTS5 gene were associated with severity of LDD while the rs34884997 variant of the ADAMTS4 gene, the rs55933916 variant of the ADAMTS5 gene and the rs9862 variant of the TIMP3 gene were associated with severity of Modic changes. 28081267 2017
Entrez Id: 9507
Gene Symbol: ADAMTS4
ADAMTS4
0.020 GeneticVariation disease BEFREE Rs4233367 (c.1877 C>T), which located in exon of ADAMTS-4 showed significant association with LDD. 26495885 2016
Entrez Id: 11096
Gene Symbol: ADAMTS5
ADAMTS5
0.010 GeneticVariation disease BEFREE The rs41270041 variant of the ADAMTS4 gene and the rs226794 variant of the ADAMTS5 gene were associated with severity of LDD while the rs34884997 variant of the ADAMTS4 gene, the rs55933916 variant of the ADAMTS5 gene and the rs9862 variant of the TIMP3 gene were associated with severity of Modic changes. 28081267 2017
Entrez Id: 207
Gene Symbol: AKT1
AKT1
0.010 AlteredExpression disease BEFREE Immunohistochemical analysis showed high levels of phospho-AKT and phospho-S6 in the large ganglionic cells forming the lesions, indicating activation of the PTEN/AKT/mTOR pathway and suggesting a central role for mTOR in the pathogenesis of LDD. 15835270 2005
Entrez Id: 54829
Gene Symbol: ASPN
ASPN
0.010 Biomarker disease BEFREE Our results indicate ASPN is a LDD gene in Asians, and common risk factors may be considered for OA and LDD. 18304494 2008
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
0.010 Biomarker disease BEFREE We identified carbohydrate sulfotransferase 3 (CHST3), an enzyme that catalyzes proteoglycan sulfation, as a susceptibility gene for LDD. 24216480 2013
Entrez Id: 8483
Gene Symbol: CILP
CILP
0.010 GeneticVariation disease BEFREE We conclude that the CILP gene polymorphism (rs2073711) is associated with a lower risk of LDD, the MMP3 (rs591058) gene polymorphism is associated with LDD among women, and the TT genotype confers a lower risk of LDD. 30288688 2018
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
0.010 GeneticVariation disease BEFREE We found that COL11A1 4603C/T was significantly associated with CDD, but not with LDD. 28944648 2018
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
0.030 GeneticVariation disease BEFREE The associating G allele in COL9A2 changes a glutamine to arginine or to tryptophan and may predispose to both hip OA and LDD, making it a candidate for degenerative connective tissue diseases. 21159828 2011
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
0.030 GeneticVariation disease BEFREE No significant association was found between COL9A2 polymorphism rs7533552 and the risk of LDD. 30288688 2018
Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
0.030 GeneticVariation disease BEFREE The meta-analysis of 10 case-control studies, including 2102 LDD cases and 2507 controls, indicated that COL9A2 gene (rs12077871, rs12722877, rs7533552) and COL9A3 gene (rs61734651) polymorphisms were not associated with LDD (rs12077871: T vs. C, OR = 1.85, 95% CI = 0.87-3.91, P = 0.11; rs12722877: G vs. C, OR = 0.83, 95% CI = 0.69-1.01, P = 0.06; rs7533552: G vs. A, OR = 1.11, 95% CI = 0.98-1.25, P = 0.09; rs61734651: T vs. C, OR = 1.57, 95% CI = 0.51-4.84, P = 0.43). 29506578 2018
Entrez Id: 1299
Gene Symbol: COL9A3
COL9A3
0.010 GeneticVariation disease BEFREE The meta-analysis of 10 case-control studies, including 2102 LDD cases and 2507 controls, indicated that COL9A2 gene (rs12077871, rs12722877, rs7533552) and COL9A3 gene (rs61734651) polymorphisms were not associated with LDD (rs12077871: T vs. C, OR = 1.85, 95% CI = 0.87-3.91, P = 0.11; rs12722877: G vs. C, OR = 0.83, 95% CI = 0.69-1.01, P = 0.06; rs7533552: G vs. A, OR = 1.11, 95% CI = 0.98-1.25, P = 0.09; rs61734651: T vs. C, OR = 1.57, 95% CI = 0.51-4.84, P = 0.43). 29506578 2018
Entrez Id: 4513
Gene Symbol: COX2
COX2
0.010 Biomarker disease BEFREE Polymorphisms in MMP3, TIMP1, and COX2, which encode molecules involved in inflammatory pathways, were associated with radiographic progression of LDD. 16261124 2005
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
0.100 CausalMutation disease CLINVAR
Entrez Id: 355
Gene Symbol: FAS
FAS
0.010 GeneticVariation disease BEFREE The polymorphisms of FAS and FASL may be associated with the presence and severity of LDD. 21806408 2011
Entrez Id: 356
Gene Symbol: FASLG
FASLG
0.010 Biomarker disease BEFREE The polymorphisms of FAS and FASL may be associated with the presence and severity of LDD. 21806408 2011
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
0.010 AlteredExpression disease BEFREE The levels of FGFR1 and miR-100 were significantly higher, while the levels of FGFR3 were significantly lower, in LDD discs, compared to the control non-LDD discs. 26279428 2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.300 Biomarker disease CTD_human Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. 9002682 1997
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.010 AlteredExpression disease BEFREE The levels of FGFR1 and miR-100 were significantly higher, while the levels of FGFR3 were significantly lower, in LDD discs, compared to the control non-LDD discs. 26279428 2015
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
0.020 GeneticVariation disease BEFREE Our findings in 5 population cohorts from Northern Europe indicate that a variant in the GDF5 gene is a risk factor for LDD in women. 21360499 2011
Entrez Id: 8200
Gene Symbol: GDF5
GDF5
0.020 GeneticVariation disease BEFREE The association between growth differentiation factor 5 (<i>GDF5</i>), single nucleotide polymorphism (SNP) rs143383 and lumbar disc degeneration (LDD) was investigated. 30186416 2018
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
0.010 GeneticVariation disease BEFREE Our study suggested that HIF-1α 1790 A > G polymorphisms may be used as a molecular marker to determine the susceptibility and severity of LDD. 23991178 2013