Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10855
Gene Symbol: HPSE
HPSE
0.010 GeneticVariation disease BEFREE This, in turn, is determined by the combinatorial action of enzymes for biosynthesis and modification of HS such as exostosis (EXTs), sulfotransferases (NDSTs), and heparanase 1 (HPSE1). 31611818 2019
Entrez Id: 4513
Gene Symbol: COX2
COX2
0.010 AlteredExpression disease BEFREE COX-2 protein expression in osteosarcoma was higher than in benign osteochondroma (OR = 7.66, <i>P </i><<i> </i>0.001). 30761249 2019
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
0.010 AlteredExpression disease BEFREE <b>Methods:</b> The levels of HDAC4 and PCNA mRNA and protein were tested in human OS and osteochondroma (OC) tissues. 31552187 2019
Entrez Id: 107075310
Gene Symbol: MTCO2P12
MTCO2P12
0.010 AlteredExpression disease BEFREE COX-2 protein expression in osteosarcoma was higher than in benign osteochondroma (OR = 7.66, <i>P </i><<i> </i>0.001). 30761249 2019
Entrez Id: 27185
Gene Symbol: DISC1
DISC1
0.010 AlteredExpression disease BEFREE In immunohistochemical analysis, the rates of positive DAXX, DRD3, and DISC1 expression were significantly higher in chondrosarcoma than in osteochondroma tissue (<i>P</i> < 0.01). 31850367 2019
Entrez Id: 5916
Gene Symbol: RARG
RARG
0.010 Biomarker disease BEFREE Palovarotene, an agonist of nuclear retinoic acid receptor gamma (RARγ) has shown therapeutic actions for heterotopic ossification and osteochondroma without serious adverse effects in animal models. 31808569 2019
Entrez Id: 2335
Gene Symbol: FN1
FN1
0.010 AlteredExpression disease BEFREE Immunohistochemistry and western blotting were used to detect the expression of FN and αvβ3 in 60 osteosarcoma specimens and in 30 osteochondroma specimens. 30691475 2019
Entrez Id: 574506
Gene Symbol: MIR503
MIR503
0.010 AlteredExpression disease BEFREE The median miR-503 expression level in osteosarcoma was two-fold lower than that in osteochondroma (median expression 6.4 and 13.09, respectively, P< 0.05). 30223385 2018
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
0.010 GeneticVariation disease BEFREE We detected a de novo truncating variant within exon 7 of KAT6B in a 8-year-old female who presented with mild intellectual disability, facial dysmorphisms highly consistent with SBBYSS, and skeletal anomalies including exostosis, that are usually considered component manifestations of GPS. 29226580 2018
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
0.010 AlteredExpression disease BEFREE The positive rate of CD133 protein expression in osteosarcoma tissue was significantly higher than that of in osteochondroma (60.7% vs. 19.0%), with statistically significant difference (P < 0.01). 29970672 2018
Entrez Id: 117145
Gene Symbol: THEM4
THEM4
0.010 Biomarker disease BEFREE Osteochondromas were seen in the lesser trochanter in all hips with IFI (8/8) and in the ischium in 50% of them (4/8). 27137903 2018
Entrez Id: 29126
Gene Symbol: CD274
CD274
0.010 Biomarker disease BEFREE Normal adipose tissue, skeletal muscle, and bone were negative for both PD-1 and PD-L1 and lipomas and osteochondroma weakly expressed PD-1 but not PD-L1. 28688724 2017
Entrez Id: 1184
Gene Symbol: CLCN5
CLCN5
0.010 GeneticVariation disease BEFREE Here, employing a composite pipeline method derived from various inference-based programs, we have characterized 26 deletion CNVs [including three novel pathogenic CNVs involving an autosomal gene (EXT2) causing hereditary osteochondromas and an X-linked gene (CLCN5) causing Dent disease, as well as 23 CNVs previously identified by inference from a cohort of Canadian autism spectrum disorder families] to the single-base-pair level of accuracy from whole-genome sequencing data. 25792359 2015
Entrez Id: 10418
Gene Symbol: SPON1
SPON1
0.010 AlteredExpression disease BEFREE Then we demonstrated that SPON1 was significantly up-regulated in 72 osteosarcoma specimens compared with benign osteochondroma samples and elevated SPON1 was positively correlated with MMP9 expression. 26032498 2015
Entrez Id: 207
Gene Symbol: AKT1
AKT1
0.010 GeneticVariation disease BEFREE For the first time mutation of AKT1 (c.49G > A) gene was detected both in cranial exostosis and in central odontogenic fibroma of the lower jaw. 25782637 2015
Entrez Id: 10641
Gene Symbol: NPRL2
NPRL2
0.010 AlteredExpression disease BEFREE We found that 18 cases (37.5%) of osteosarcoma and 27 cases (67.5%) of osteochondroma showed positive NPRL2 expression. 23321467 2013
Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1
0.010 AlteredExpression disease BEFREE Furthermore, the polyclonal antibody was used to evaluate hEAG1 expression in 42 human osteosarcoma specimens and 19 osteochondromas specimens by immunohistochemistry. hEAG1 was expressed in 71.4% (30/42) osteosarcoma, and 15.8% (3/19) osteochondromas. 22248279 2012
Entrez Id: 6383
Gene Symbol: SDC2
SDC2
0.010 Biomarker disease BEFREE We investigated the expression of EXT1 and EXT2 (quantitative RT-PCR) and of different HSPGs (immunohistochemistry) in solitary and hereditary osteochondromas and in cases with malignant progression to secondary peripheral chondrosarcoma, in relation to possible mutations and promoter methylation. 17226760 2007
Entrez Id: 2719
Gene Symbol: GPC3
GPC3
0.010 AlteredExpression disease BEFREE Decreased EXT expression and intracellular accumulation of heparan sulphate proteoglycan in osteochondromas and peripheral chondrosarcomas. 17226760 2007
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
0.010 Biomarker disease BEFREE In addition, ectopic expression of collagen type I and abnormal presence of osteocalcin (OC), osteopontin (OP), and bone sialoprotein (BSP) were observed in the cartilaginous osteochondromas. 16476576 2006
Entrez Id: 3549
Gene Symbol: IHH
IHH
0.010 AlteredExpression disease BEFREE The expression patterns of IHH (Indian hedgehog) and FGFR3 (Fibroblast Growth Factor Receptor 3) were similar with transcripts expressed throughout osteochondromas. 16476576 2006
Entrez Id: 632
Gene Symbol: BGLAP
BGLAP
0.010 Biomarker disease BEFREE In addition, ectopic expression of collagen type I and abnormal presence of osteocalcin (OC), osteopontin (OP), and bone sialoprotein (BSP) were observed in the cartilaginous osteochondromas. 16476576 2006
Entrez Id: 846
Gene Symbol: CASR
CASR
0.010 AlteredExpression disease BEFREE CAR mRNA was expressed at high levels in osteosarcoma, Ewing's sarcoma, neurofibroma, and schwannoma; at intermediate levels in exostosis, giant cell tumor, liposarcoma, synovial sarcoma, malignant peripheral nerve sheath tumor, and hemangioma; and at low levels in alveolar soft part sarcoma and desmoid. 15173092 2004
Entrez Id: 407
Gene Symbol: ARR3
ARR3
0.010 AlteredExpression disease BEFREE CAR mRNA was expressed at high levels in osteosarcoma, Ewing's sarcoma, neurofibroma, and schwannoma; at intermediate levels in exostosis, giant cell tumor, liposarcoma, synovial sarcoma, malignant peripheral nerve sheath tumor, and hemangioma; and at low levels in alveolar soft part sarcoma and desmoid. 15173092 2004
Entrez Id: 1525
Gene Symbol: CXADR
CXADR
0.010 AlteredExpression disease BEFREE CAR mRNA was expressed at high levels in osteosarcoma, Ewing's sarcoma, neurofibroma, and schwannoma; at intermediate levels in exostosis, giant cell tumor, liposarcoma, synovial sarcoma, malignant peripheral nerve sheath tumor, and hemangioma; and at low levels in alveolar soft part sarcoma and desmoid. 15173092 2004