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: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis). 15253765 2004
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE Multiple osteochondromas (MO) is an autosomal dominant condition, caused by mutations in either the EXT1 or the EXT2 gene. 15586175 2005
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE Multiple hereditary exostoses (MHE) is an autosomal dominant skeletal disorder caused by mutations in one of the two EXT genes and characterized by multiple osteochondromas that generally arise near the ends of growing long bones. 16476576 2006
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE The coding exons of EXT1 and EXT2 were screened in 72 unrelated probands affected with MO. 17041877 2006
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 Biomarker disease BEFREE Multiple osteochondromas is a hereditary syndrome that is characterized by the formation of cartilage-capped bony neoplasms (osteochondromas), for which exostosis (multiple)-1 (EXT1) has been identified as a causative gene. 17341731 2007
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 Biomarker disease 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: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 19344451 2009
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease 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: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE In this article, the clinical aspects and molecular genetics of EXT1 and EXT2 are reviewed together with 895 variants in MO patients. 19810120 2009
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 Biomarker disease BEFREE An in vitro three-dimensional chondrogenic pellet model was used to compare heterozygous bone marrow-derived mesenchymal stem cells (MSCs EXT(wt/-)) of MO patients with normal MSCs and the corresponding tumor specimens (presumed EXT(-/-)). 20813973 2010
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE Multiple osteochondromas (MO) is an autosomal-dominant disorder and mutations in EXT1 and EXT2 account up to 78% of the cases studied, including missense, nonsense, frameshift, and splice-site mutations. 20872591 2010
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE Causative mutations in EXT1 or EXT2 genes have been described in 85-90 % of MO cases. 21280143 2011
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal dominant multiple osteochondromas (MO). 21533187 2011
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE MO is caused by various mutations in EXT1 or EXT2, whereby large genomic deletions (single-or multi-exonic) are responsible for up to 8% of MO-cases. 21703028 2011
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease 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: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas. 22040554 2011
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE The coding exons of EXT1 and EXT2 were screened in 10 probands affected with MO. 22820392 2012
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas. 23341036 2013
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. 23439489 2013
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas. 23629877 2013
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE The novel c.1457insG deleterious mutation of EXT1 gene reported in this study expands the causal mutation spectrum of MO, and may be helpful for prenatal genetic screening and early diagnosis of MO. 24009674 2013
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE Our findings are useful for extending the mutational spectrum in EXT1 and EXT2 and understanding the genetic basis of MO in Chinese patients. 24120389 2013
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE Multiple osteochondromas (MO) is an autosomal-dominant skeletal disorder caused by mutations in the exostosin-1 (EXT1) or exostosin-2 (EXT2) genes. 25744876 2015
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 GeneticVariation disease BEFREE Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 26961984 2016
CUI: C0206641
Disease: Osteochondromatosis
Osteochondromatosis
0.100 Biomarker disease BEFREE EXT1 is involved in the biosynthesis of heparan sulfate (HS), an essential molecule, and its dysfunction may lead to MO. 28035357 2017