Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 Biomarker disease HPO
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 Biomarker disease BEFREE <b>Results:</b> The results of ELISA (IL-1β and tumor necrosis factor-α), the histological evaluation (Mankin and OARSI score), western blotting [COL2A1, matrix metalloproteinase (MMP)-3, MMP-13, IL-1β, and nuclear factor-kappaB (NF-κB) p65], and immunohistochemistry (COL2A1, MMP-3, and MMP-13) indicated that oral CAR attenuated the development of T2DM-induced OA and suppressed the inflammatory response. 29928231 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 Biomarker disease BEFREE <i>Col2a1-CreER<sup>T2</sup>;Kdm6b<sup>f/f</sup></i> mice exhibited accelerated OA development at 8 and 12 weeks following surgical induction. 28314754 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 GeneticVariation disease BEFREE Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1). 11708863 2001
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 GeneticVariation disease BEFREE A COL2A1 gene polymorphism is related with advanced stages of osteoarthritis of the knee in Mexican Mestizo population. 19756630 2010
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 AlteredExpression disease BEFREE A significant correlation was, however, observed for H19, COL2A1, and miR-675 expression levels in OA tissue, and functional regulation of these candidate molecules was assessed under anabolic and catabolic conditions. 22527881 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 Biomarker disease CTD_human A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia. 16189708 2005
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 Biomarker disease CTD_human Abnormal craniofacial growth and early mandibular osteoarthritis in mice harbouring a mutant type II collagen transgene. 9061443 1997
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 GeneticVariation disease BEFREE Adjacent genes, for COL2A1 and the vitamin D receptor, are associated with separate features of radiographic osteoarthritis of the knee. 10902746 2000
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 AlteredExpression disease BEFREE Cartilage degeneration in OA is a gradual progress accompanied with gradual loss of collagen type II and a gradual decrease in mRNA expression of SOX9, ACAN and COL2A1. 27428952 2016
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 AlteredExpression disease BEFREE Compared to control group, increasing levels of β-catenin and MMP-13 expression with reduction of miR-320 and COL2A1 expressions were observed in OA chondrocytes. 30280762 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 AlteredExpression disease BEFREE Compared with the normal group, the expression of ALK1, SMAD1, COL10A1 and MMP3 was higher in the OA groups, whereas the expression of COL2A1 was lower in the OA groups. 29753378 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 GeneticVariation disease BEFREE Despite studies suggesting associations of OA with both COL2A1 and VDR loci, our results suggest that mutations at the COL2A1/VDR locus do not play an important role as a cause of common OA in the population at large. 11824954 2002
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 GeneticVariation disease BEFREE Familial OA with classic clinical and radiographic findings is tightly linked to the COL2A1 gene. 8452585 1993
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 GeneticVariation disease BEFREE Follow-up with whole-exome sequencing analysis revealed a mutation c.2032G>A (p.Gly678Arg) in the COL2A1 gene (NCBI Reference Sequence: NM_001844.4), which co-segregated with the disease phenotype in this family, manifested by severe hip dysplasia and osteoarthritis. 30740902 2019
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 AlteredExpression disease BEFREE Following transfection with ds-miRNA-4784, Col2a1 mRNA expression levels increased by 63 and 126% compared with the levels prior to treatment in groups OA at week 4 and 8, respectively (P<0.01). 30542421 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 Biomarker disease BEFREE Further, Wogonin exhibits potent chondroprotective potential by switching the signaling axis of matrix degradation from catabolic towards anabolic ends and inhibited the expression, production and activities of matrix degrading proteases including MMP-13, MMP-3, MMP-9, and ADAMTS-4 in OA chondrocytes, and blocked the release of s-GAG and COL2A1 in IL-1β-stimulated OA cartilage explants. 28237856 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 Biomarker disease BEFREE Furthermore, expression of several key mRNAs associated with OA, including those for matrix metalloproteinase (MMP)-9, MMP-13, bone morphogenetic protein (BMP)-2, COL2A1 and ADAMTS5, was investigated by RT-PCR in OA and normal cartilage. 25430712 2014
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 GeneticVariation disease BEFREE Haplotype analysis of three polymorphisms of the COL2A1 gene and associations with generalised radiological osteoarthritis. 10735581 1999
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 GeneticVariation disease BEFREE Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia--are there "hot spots" on COL2A1? 8877930 1996
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 AlteredExpression disease BEFREE However, Wnt modulation increased COL2A1 and PRG4 transcripts, which are downregulated in chondrocytes in OA. 29415892 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 GeneticVariation disease GWASDB Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. 22763110 2012
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 Biomarker disease BEFREE IL-1β stimulus determined a significant regulation of survival, apoptotic ratio, as well as of gene expression and serum levels of MMP-1,-3,-13 and Col2a1 in OA chondrocytes compared to baseline. 30316071 2018
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 AlteredExpression disease BEFREE In contrast, COL2A1, other collagen genes, and factors associated with skeletal development were up-regulated in late OA, compared with early OA or normal cartilage. 18576389 2008
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
0.500 AlteredExpression disease BEFREE In grades II and III OA cartilage, the expression of miR-146a and COL2A1 was decreased, whereas the expression of matrix metalloproteinase 13 (MMP-13) was elevated in grade II OA cartilage. 19333945 2009