HPSE, heparanase, 10855

N. diseases: 393; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses
0.030 Biomarker disease BEFREE This, in turn, is determined by the combinatorial action of enzymes for biosynthesis and modification of HS such as exostosis (EXTs), sulfotransferases (NDSTs), and heparanase 1 (HPSE1). 31611818 2019
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses
0.030 Biomarker disease BEFREE These properties may allow heparanase to play a role in exostosis genesis and pathogenesis, thus making it a conceivable therapeutic target in hereditary multiple exostoses. 25863260 2015
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses
0.030 AlteredExpression disease BEFREE Immunohistochemical staining of tissue sections and Western blotting of cell cultures derived from HME patients revealed higher levels of heparanase compared with solitary exostosis patients and of control subjects. 18452536 2008