EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Disease: Hereditary multiple osteochondromas ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4324432
Disease: Hereditary multiple osteochondromas
Hereditary multiple osteochondromas 		0.070 GeneticVariation disease BEFREE We studied 114 HMO families (158 affected individuals) with causative EXT1 or EXT2 variants identified by Sanger sequencing, or multiplex ligation-dependent probe amplification and qPCR. 30806661 2019
CUI: C4324432
Disease: Hereditary multiple osteochondromas
Hereditary multiple osteochondromas 		0.070 GeneticVariation disease BEFREE Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas. 30334991 2018
CUI: C4324432
Disease: Hereditary multiple osteochondromas
Hereditary multiple osteochondromas 		0.070 GeneticVariation disease BEFREE We illustrate this point through the characterization of a novel ∼230 kb EXT1 duplication CNV causing autosomal dominant hereditary multiple osteochondromas. 25990786 2015
CUI: C4324432
Disease: Hereditary multiple osteochondromas
Hereditary multiple osteochondromas 		0.070 GeneticVariation disease BEFREE Osteochondromas are caused by genetic abnormalities in EXT1 or EXT2: homozygous deletion of EXT1 characterizes sporadic osteochondromas (non-familial/solitary), and germline mutations in EXT1 or EXT2 combined with loss of heterozygosity define hereditary multiple osteochondromas. 21804604 2012
CUI: C4324432
Disease: Hereditary multiple osteochondromas
Hereditary multiple osteochondromas 		0.070 GeneticVariation disease BEFREE Pathogenetic analysis showed that HMOs are caused by mutations in either of two genes: exostosis (multiple)-1 (EXT1), which is located on chromosome 8q24.11-q24.13 or exostosis (multiple)-2 (EXT2), which is located on chromosome 11p11-12. 18853760 2008
CUI: C4324432
Disease: Hereditary multiple osteochondromas
Hereditary multiple osteochondromas 		0.070 PosttranslationalModification disease BEFREE Mutational inactivation of EXT1 or EXT2 is the cause of hereditary multiple osteochondromas. 17226760 2007
CUI: C4324432
Disease: Hereditary multiple osteochondromas
Hereditary multiple osteochondromas 		0.070 Biomarker disease BEFREE An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. 16283885 2005