EXT2, exostosin glycosyltransferase 2, 2132

N. diseases: 137; N. variants: 34
Disease: Disorder of skeletal system ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0263661
Disease: Disorder of skeletal system
Disorder of skeletal system 		0.020 GeneticVariation group 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: C0263661
Disease: Disorder of skeletal system
Disorder of skeletal system 		0.020 GeneticVariation group BEFREE The missense mutations in EXT1 and EXT2 may pinpoint crucial domains in both proteins and therefore give clues for the understanding of the pathophysiology of this skeletal disorder. 9326317 1997