EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Disease: EXOSTOSES, MULTIPLE, TYPE II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		0.040 Biomarker disease BEFREE Osteochondromas were more frequent in EXT1 as compared to EXT2 patients. 30806661 2019
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		0.040 GeneticVariation disease BEFREE In agreement with literature data, EXT1 gene mutations were scattered along all the protein sequence, while EXT2 lesions fell in the first part of the protein. 23262345 2013
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		0.040 Biomarker disease BEFREE Our structural predictions revealed four domains in the proteins encoded by EXT1 and EXT2: signalP, transmembrane regions, exostosin, and glyco_transf-64. 21039224 2010
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
EXOSTOSES, MULTIPLE, TYPE II 		0.040 Biomarker disease BEFREE The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis. 11256613 2000