Disease Term Disease ID Gene Symbol References
Pseudo-Hurler Polydystrophy C0033788 MCOLN1 20864526, 21613607
GNPTAB 24045841, 23566849, 19659762, 25788519, 24550498, 16630736, 19617216, 19197337, 28095893, 16094673, 25505245, 19634183, 18425436, 16465621, 27662472, 17034777, 16116615, 25525159, 19938078, 25606425, 28918368, 24375680, 27710913, 16200072, 24798265, 23227064, 15305357, 25473036, 23192343, 23773965, 27604308, 21228398, 25107912, 28396763, 20880125, 21416587, 24060719, 27180337