EXT2, exostosin glycosyltransferase 2, 2132

N. diseases: 137; N. variants: 34
Disease: Enchondromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014084
Disease: Enchondromatosis
Enchondromatosis 		0.010 GeneticVariation disease BEFREE In addition, mutation analysis of the EXT1 and EXT2 coding regions was performed using PCR-single-strand conformation polymorphism and sequencing analysis for 12 of the 20 chondrosarcoma cases (8 primary, 1 secondary to enchondromatosis, 1 secondary to osteochondroma, and 2 extraskeletal ordinary) and five cell lines. 15796962 2005