Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 363
Gene Symbol: AQP6
AQP6
0.010 Biomarker disease BEFREE The KID database was queried for ICD-9 codes pertaining to congenital and idiopathic scoliosis from 2003, 2006, 2009, 2012. 30635164 2019
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
0.010 GeneticVariation disease BEFREE Previously reported TIMP2 study indicates an association of genic rs8179090 with IS progression in a Han Chinese population. 31119800 2019
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.010 Biomarker disease BEFREE Compared with the control group, narrowed facet joint cartilage but increased proliferative chondrocytes and upregulated collagen type II (COL2A1) and B-cell lymphoma-2 (Bcl2) were observed in IS patients. 31337422 2019
Entrez Id: 100124700
Gene Symbol: HOTAIR
HOTAIR
0.010 Biomarker disease BEFREE Nucleus pulposus (NP) tissue samples from 10 patients with idiopathic scoliosis and 10 patients with lumbar disc herniation were collected. qRT-PCR was used to assess the expression of HOTAIR and ECM-related genes; western blotting was used to detect the expression of senescence biomarkers, apoptosis-related proteins, and Wnt/β-catenin pathway; flow cytometry was used to detect apoptosis; and the MTT assay was used to determine cell proliferation. 31481088 2019
Entrez Id: 7908
Gene Symbol: EOS
EOS
0.010 Biomarker disease BEFREE Is Radiation-Free Ultrasound Accurate for Quantitative Assessment of Spinal Deformity in Idiopathic Scoliosis (IS): A Detailed Analysis With EOS Radiography on 952 Patients. 31399250 2019
Entrez Id: 406948
Gene Symbol: MIR15A
MIR15A
0.010 GeneticVariation disease BEFREE In addition, Bcl2-targeted miR-15a was downregulated in IS patients, and the level of H3K9me3 in the promoter region of the miR-15a host gene was remarkably increased in IS patients compared with the control group. 31337422 2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.010 Biomarker disease BEFREE The KID database was queried for ICD-9 codes pertaining to congenital and idiopathic scoliosis from 2003, 2006, 2009, 2012. 30635164 2019
Entrez Id: 64116
Gene Symbol: SLC39A8
SLC39A8
0.010 GeneticVariation disease BEFREE A missense variant in SLC39A8 is associated with severe idiopathic scoliosis. 30301978 2018
Entrez Id: 406949
Gene Symbol: MIR15B
MIR15B
0.010 AlteredExpression disease BEFREE MiR-15b was up-regulated in degenerative NP tissues and in IL-1β-stimulated NP cells, as compared to the levels in normal controls (normal tissue specimens from patients with idiopathic scoliosis). 28039556 2017
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
0.010 GeneticVariation disease BEFREE Our findings suggest a rare variant in CELSR2 as causative for idiopathic scoliosis in a family with dominant segregation and further highlight common variation in CELSR2 in general susceptibility to idiopathic scoliosis in the Swedish-Danish population. 29240829 2017
Entrez Id: 260402
Gene Symbol: IS1
IS1
0.010 Biomarker disease BEFREE Comparison of Surgical Outcome of Adolescent Idiopathic Scoliosis and Young Adult Idiopathic Scoliosis: A Match-Pair Analysis of 160 Patients. 28169957 2017
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
0.010 AlteredExpression disease BEFREE In this study, we observed significant activation of the NLRP3 inflammasome in NP tissues obtained from patients with degenerative disc disease compared to that with idiopathic scoliosis according to results detected by Western blot and immunofluorescence. 28224704 2017
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.010 AlteredExpression disease BEFREE MiR-15b was up-regulated in degenerative NP tissues and in IL-1β-stimulated NP cells, as compared to the levels in normal controls (normal tissue specimens from patients with idiopathic scoliosis). 28039556 2017
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.010 GeneticVariation disease BEFREE The aim of this study was to examine the association between idiopathic scoliosis and genetic polymorphism of angiotensin-converting enzyme and α-actinin-3. 27819725 2016
Entrez Id: 89
Gene Symbol: ACTN3
ACTN3
0.010 GeneticVariation disease BEFREE The aim of this study was to examine the association between idiopathic scoliosis and genetic polymorphism of angiotensin-converting enzyme and α-actinin-3. 27819725 2016
Entrez Id: 4314
Gene Symbol: MMP3
MMP3
0.010 GeneticVariation disease BEFREE No genotype or allele of MMP3 (rs3025058) was found to be correlated to the onset or progression of IS (P > 0.05). 26656061 2016
Entrez Id: 5075
Gene Symbol: PAX1
PAX1
0.010 GeneticVariation disease BEFREE A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. 25784220 2015
Entrez Id: 10660
Gene Symbol: LBX1
LBX1
0.010 Biomarker disease BEFREE Here, we confirm LBX1 as a susceptibility gene for idiopathic scoliosis in a Scandinavian population and report that we are unable to find evidence of other genes of similar or stronger effect. 25987191 2015
Entrez Id: 57211
Gene Symbol: ADGRG6
ADGRG6
0.010 GeneticVariation disease BEFREE Gpr126/Adgrg6 deletion in cartilage models idiopathic scoliosis and pectus excavatum in mice. 25954032 2015
Entrez Id: 221458
Gene Symbol: KIF6
KIF6
0.010 Biomarker disease BEFREE Overall, these findings demonstrate a novel role for kif6 in spinal development and identify a new candidate gene for human idiopathic scoliosis. 25283277 2014
Entrez Id: 406991
Gene Symbol: MIR21
MIR21
0.010 AlteredExpression disease BEFREE Here, we showed that miR-21 was significantly upregulated in degenerative nucleus pulposus tissues when compared with nucleus pulposus tissues that were isolated from patients with idiopathic scoliosis and that miR-10b levels were associated with disc degeneration grade. 24603539 2014
Entrez Id: 10752
Gene Symbol: CHL1
CHL1
0.010 GeneticVariation disease BEFREE There was no statistical association between polymorphisms of the CHL1 gene and idiopathic scoliosis in a Chinese population. 24512353 2014
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.010 AlteredExpression disease BEFREE An artificial neural network (ANN) was developed that could serve to differentiate between familial and sporadic cases of idiopathic scoliosis based on the expression levels of ACTB and GAPDH in different tissues of scoliotic patients. 23289769 2013
Entrez Id: 2597
Gene Symbol: GAPDH
GAPDH
0.010 AlteredExpression disease BEFREE An artificial neural network (ANN) was developed that could serve to differentiate between familial and sporadic cases of idiopathic scoliosis based on the expression levels of ACTB and GAPDH in different tissues of scoliotic patients. 23289769 2013
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.010 GeneticVariation disease BEFREE The allele -509T and genotype -509TT of the TGFB1 gene were significantly associated with the increased risk of idiopathic scoliosis in both females and males (P < 0.01). 23446766 2013