HPSE2, heparanase 2 (inactive), 60495

N. diseases: 81; N. variants: 46
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
0.010 PosttranslationalModification disease BEFREE We have investigated the pattern of X-inactivation in the peripheral blood of carriers of DC using the methylation-sensitive Hpa II site in the androgen receptor gene (HUMARA). 9310472 1997