Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3179455
Disease: Niemann-Pick Disease, Type C1
Niemann-Pick Disease, Type C1
0.010 AlteredExpression disease BEFREE In addition, we found a reduction in endogenous SPNS1 expression in fibroblasts derived from NPC-1 patients compared with normal fibroblasts. 29162837 2017