EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Disease: Enchondromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		0.030 Biomarker 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: C0014084
Disease: Enchondromatosis
Enchondromatosis 		0.030 GeneticVariation disease BEFREE To evaluate promoter methylation (which is an epigenetic gene silencing mechanism) of EXT1 and EXT2, we performed methylation-specific polymerase chain reaction (PCR) for 20 chondrosarcoma cases (12 primary, 3 secondary to osteochondroma, 2 secondary to enchondromatosis, 2 extraskeletal ordinary, and 1 clear cell) and in five cell lines. 15796962 2005
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		0.030 GeneticVariation disease BEFREE Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis). 15253765 2004