EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.320 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
0.320 GeneticVariation disease BEFREE Germline mutations in the Exostoses-1 gene (EXT1) are found in hereditary multiple exostoses syndrome, which is characterized by the formation of osteochondromas and an increased risk of chondrosarcomas and osteosarcomas. 15385438 2004
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.320 CausalMutation disease CGI