Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220756
Disease: Niemann-Pick Disease, Type C
Niemann-Pick Disease, Type C
0.010 Biomarker disease BEFREE L-leucine and SPNS1 coordinately ameliorate dysfunction of autophagy in mouse and human Niemann-Pick type C disease. 29162837 2017