EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE EXT1 is regarded as a classic tumor suppressor. 31465316 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE We have previously shown that Ext1 mutated mouse embryonic fibroblasts produce short sulfated HS chains which dramatically influence tumor cell behavior in a 3-dimensional (3D) heterospheroid system composed of tumor cells and fibroblasts. 29580921 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE We analyzed the EXT1 gene expression between HCC and normal liver tissue and compared the clinical significance of tumor tissue's EXT1 gene expression of HCC patients without vascular invasion based on data from TCGA database. 30278583 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE Our earlier DNA microarray analysis revealed expression of putative tumour suppressor exostosin 1 (EXT-1) in odontoblasts. 28448806 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 PosttranslationalModification group BEFREE Since mutations in the EXT1 gene are responsible for ~65% of the MO families with known causal mutation, our aim was to isolate and characterize the EXT1 promoter region to elucidate the transcriptional regulation of this tumor suppressor gene. 22037484 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Expression of glycosylation genes involved in heparan biosynthesis (EXT1 and HS3ST1) was increased in ER-negative tumors. 22025563 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The cells in the reduced PEI-stained areas are likely associated with loss-of-function mutations in the EXT genes, and they might contribute to tumour initiation by disrupting the gradients. 21506131 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The genetics of these tumors is intriguing ranging from single gene event (ie, EXT mutation in multiple osteochondromas) to heterogeneous rearrangements with no recurrent involved chromosomal regions such as in chondroblastoma. 19700940 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE The tumor suppressor genes EXT1 and EXT2 are involved in the formation of multiple osteochondromas, which can progress to become secondary peripheral chondrosarcomas. 19179614 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE In almost 90% of MO patients germline mutations in the tumour suppressor genes EXT1 or EXT2 are found. 18271966 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Array-CGH analysis of tumor DNA revealed that all eight osteochondromas had a large deletion of 8q; five tumors had an additional small deletion of the other allele of 8q that contained the EXT1 gene. 17341731 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Finally, additional CIN-tumor-associated DNA amplifications were identified for EXT1 (8q24.11) and MYC (8q24.12) as well as DNA deletions for MAP2K5 (15q23) and LAMA3 (18q11.2). 17143621 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Screening a large collection of human cancer cell lines (n=79) and primary tumors (n=454) from different cell types, we found that EXT1 CpG island hypermethylation was common in leukemia, especially acute promyelocytic leukemia and acute lymphoblastic leukemia, and non-melanoma skin cancer. 15385438 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE We and others have previously suggested that a two-hit mutational model applies to the development of an exostosis where a germline mutation coupled with a somatic mutation results in the loss of EXT1 or EXT2 function and subsequent tumor formation. 12239711 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. 10639137 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE However, the discovery that the EXT family of tumour suppressor genes are responsible for HME suggests that it is more appropriate to classify HME as a familial neoplastic trait. 10739291 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group 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
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The majority of these mutations are mutations causing loss of function, which is consistent with the presumed tumor suppressor function of the EXT genes. 10679937 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group 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
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Indirect evidence suggests that EXT proteins are involved in glycosaminoglycan synthesis, act as tumor suppressors and affect hedgehog signaling. 10545594 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. 9620772 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE The development is thus mainly due to loss of function of the EXT genes, consistent with the hypothesis that the EXT genes have a tumor- suppressor function. 9463333 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Thus at least two members of the EXT family of tumor suppressors encode glycosyltransferases involved in the chain elongation step of HS biosynthesis. 9756849 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Recently, the EXT1 gene has been isolated and partially characterized and appears to encode a tumor suppressor gene. 9150727 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation group BEFREE Among the tumor suppressor genes, frequent LOH was noted in the p53 (66%), Rb1 (33%), EXT1 (33%), and APC (20%) genes. 9307185 1997