Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 Biomarker disease GENOMICS_ENGLAND Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. 29529714 2018
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 AlteredExpression disease BEFREE This observation supports a recent model of sarcomagenesis in which osteochondroma cells bear EXT homozygous inactivation, whereas chondrosarcoma-initiating cells are EXT-expressing cells. 25744876 2015
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 Biomarker disease GENOMICS_ENGLAND Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma. 23770606 2013
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 Biomarker disease BEFREE By immunohistochemistry, we confirm the presence of cells with dysfunctional EXT1 in sporadic osteochondromas and show cells with functional EXT1 in sporadic secondary peripheral chondrosarcomas. 21804604 2012
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 Biomarker disease BEFREE Recently, it has been shown that cells with functional EXT1 and EXT2 are outnumbering EXT1/EXT2 mutated cells in secondary peripheral chondrosarcomas. 22116208 2012
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 GeneticVariation disease BEFREE Malignant transformation was observed in 5% of patients, and no evidence of association between chondrosarcoma onset and EXT mutation, sex, severity of disease, or number of lesions was detected. 22258776 2011
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 Biomarker disease LHGDN Immunohistochemistry was used to assess HSPG (CD44v3 and SDC2), WNT (beta-catenin), and TGF-beta (PAI-1 and phosphorylated Smad2) signaling, whereas IHH signaling was studied both by quantitative polymerase chain reaction and in vitro. mRNA levels of both EXT1 and EXT2 were normal in central chondrosarcomas; genomic alterations were absent in these regions and in 30 other HSPG-related genes. 19179614 2009
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 Biomarker disease BEFREE EXT1 and EXT2 were therefore evaluated in central chondrosarcomas at both the DNA and mRNA levels. 19179614 2009
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 AlteredExpression disease BEFREE Decreased EXT expression and intracellular accumulation of heparan sulphate proteoglycan in osteochondromas and peripheral chondrosarcomas. 17226760 2007
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 PosttranslationalModification disease LHGDN When considering tumor development in primary chondrosarcoma, we should include mutations in EXT2, along with the status of other members of the EXT gene family. 15796962 2005
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 GeneticVariation disease BEFREE Mutations of EXT1 and EXT2 have rarely been detected in sporadic secondary chondrosarcomas from osteochondroma; these frequently display loss of heterozygosity at the EXT1 and EXT2 loci, but primary chondrosarcomas typically do not. 15796962 2005
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 GeneticVariation disease BEFREE Germline mutations in the Exostoses-1 gene (EXT1) are found in hereditary multiple exostoses syndrome, which is characterized by the formation of osteochondromas and an increased risk of chondrosarcomas and osteosarcomas. 15385438 2004
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 GeneticVariation disease BEFREE Cellular factors that affect virus growth and replication are often key regulators of the cell cycle and EXT1 is no different-humans with inherited mutations in EXT1 have developmental defects that lead to bone tumours (hereditary multiple exostoses, HME) and sometimes chondrosarcomas. 11114076 2001
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 GeneticVariation disease BEFREE The most severe forms of the disease and malignant transformation of exostoses to chondrosarcomas were associated with EXT1 mutations. 11432960 2001
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 GeneticVariation disease BEFREE The EXT genes are a group of putative tumor suppressor genes that previously have been shown to participate in the development of hereditary multiple exostoses (HME), HME-associated and isolated chondrosarcomas. 10750558 2000
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 GeneticVariation disease BEFREE Patterns of EXT gene mutation in hereditary multiple exostoses, in solitary and multiple osteochondromas, and in chondrosarcoma are analogous to those found in other tumour suppressor genes responsible for family cancer traits and associated malignancies. 10398153 1999
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 Biomarker disease GENOMICS_ENGLAND EXT1- and EXT2-mutation analysis was performed in a total of 34 sporadic and hereditary osteochondromas and secondary peripheral chondrosarcomas. 10441575 1999
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 Biomarker disease BEFREE The complexity of the chromosome aberrations reflect the advanced stage of this chondrosarcoma; we suggest a possible involvement of the EXT1 gene located on chromosome 8. 9242219 1997
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 GeneticVariation disease BEFREE These results agree with previous findings that mutations at EXT1 and multiple genetic events that include LOH at other loci may be required for the development of chondrosarcoma. 8981950 1997
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 GeneticVariation disease BEFREE However, recent studies in sporadic and exostosis-derived chondrosarcomas suggest that the 8q24.1-encoded EXT1 gene may have tumour suppressor function. 7550340 1995
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 Biomarker disease BEFREE LOH for markers linked to EXT1 on chromosome 8 was detected in a chondrosarcoma that arose in a man with EXT. 7726169 1995
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 CausalMutation disease CLINVAR
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 GeneticVariation disease ORPHANET
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 Biomarker disease HPO
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.800 Biomarker disease CTD_human