HPSE2, heparanase 2 (inactive), 60495

N. diseases: 81; N. variants: 46
Disease: Hemophilia, NOS ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS 		0.010 GeneticVariation disease BEFREE Analysis of the methyl-sensitive Hpa II sites at the 5' end of the hypoxanthine phosphoribosyltransferase gene showed that skewed inactivation of the X chromosome carrying her normal FIX gene accounted for the hemophilia phenotype. 9590153 1998