Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 176
Gene Symbol: ACAN
ACAN
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.020 GeneticVariation 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: 176
Gene Symbol: ACAN
ACAN
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.020 AlteredExpression 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: 9508
Gene Symbol: ADAMTS3
ADAMTS3
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.010 GeneticVariation 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
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.020 GeneticVariation 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
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.020 GeneticVariation 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: 11096
Gene Symbol: ADAMTS5
ADAMTS5
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.010 GeneticVariation 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: 54829
Gene Symbol: ASPN
ASPN
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.320 Biomarker CTD_human

Entrez Id: 54829
Gene Symbol: ASPN
ASPN
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.320 Biomarker BEFREE Its biological role has been unclear, but recent genetic studies have demonstrated association between asporin and various bone and joint diseases, including osteoarthritis, rheumatoid arthritis and lumbar disc disease. 18336287

2008

Entrez Id: 54829
Gene Symbol: ASPN
ASPN
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.320 Biomarker 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: 842
Gene Symbol: CASP9
CASP9
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.020 GeneticVariation BEFREE Caspase 9 gene polymorphism and susceptibility to lumbar disc disease in the Han population in northern China. 21117896

2011

Entrez Id: 842
Gene Symbol: CASP9
CASP9
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.020 GeneticVariation BEFREE The polymorphism in the promoter region of CASP-9 enhances the transcriptional activity of this gene, thereby modulating the susceptibility to LDD. 21091209

2011

Entrez Id: 9469
Gene Symbol: CHST3
CHST3
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.010 Biomarker 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
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.340 Biomarker BEFREE To demonstrate the role of CILP in LDD in vivo, we generated transgenic mice that express CILP specifically in the intervertebral disc tissues and assessed whether CILP exacerbates disc degeneration. 24631904

2014

Entrez Id: 8483
Gene Symbol: CILP
CILP
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.340 GeneticVariation 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: 8483
Gene Symbol: CILP
CILP
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.340 Biomarker CTD_human

Entrez Id: 8483
Gene Symbol: CILP
CILP
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.340 Biomarker BEFREE Therefore, we conclude that the extracellular matrix protein CILP regulates TGF-beta signaling and that this regulation has a crucial role in the etiology and pathogenesis of LDD. 15864306

2005

Entrez Id: 8483
Gene Symbol: CILP
CILP
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.340 Biomarker BEFREE The results showed no evidence of association in the Finnish (OR = 1.35, 95% CI 0.97 to 1.87; p = 0.14) or the Chinese (OR = 1.05, 95% CI 0.77 to 1.43; p = 0.71) samples, suggesting that cartilage intermediate layer protein gene is not a major risk factor for symptoms of LDD in Caucasians or in the general population that included individuals with or without symptoms. 17220213

2007

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.310 GeneticVariation BEFREE We found that COL11A1 4603C/T was significantly associated with CDD, but not with LDD. 28944648

2018

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.310 Biomarker CTD_human

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.010 GeneticVariation BEFREE A previously studied sequence change of the regulatory region of the COL1A1 gene, the same as has previously been associated with low BMD in many populations and LDD in older adults, showed a strong association with LDD in young male soldiers who were recently diagnosed with this disease. 15994869

2005

Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.090 GeneticVariation 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
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.090 GeneticVariation BEFREE Two SNPs that introduce tryptophan polymorphisms in COL9A2 and COL9A3 are independently linked to an increased risk of lumbar disc disease. 21311409

2011

Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.090 GeneticVariation BEFREE Recently associations of COL9A2 (Trp2 allele) and COL9A3 (Trp3 allele) polymorphisms with lumbar disc disease characterized by sciatica have been reported. 16133074

2006

Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.090 GeneticVariation BEFREE It has been shown previously that a tryptophan mutation of the COL9A2 gene is a major risk factor for LDD in a Finish population. 18080148

2008

Entrez Id: 1298
Gene Symbol: COL9A2
COL9A2
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease
0.090 GeneticVariation BEFREE However, we did see association of a COL9A2 specific haplotype with LDD (P=0.025; permutation test); this association is more significant in patients with severe lumbar disc degeneration (P=0.011). 17024315

2006