EXT2, exostosin glycosyltransferase 2, 2132

N. diseases: 137; N. variants: 34
Disease: Osteosarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.310 GeneticVariation disease BEFREE In humans, mutations in either of the exostosin genes EXT1 and EXT2 lead to osteosarcomas or multiple exostoses. 28068429 2017
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.310 CausalMutation disease CGI