EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Disease: Osteochondromatosis ×
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 New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 19344451 2009
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 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 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 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 Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis). 15253765 2004