Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
0.020 GeneticVariation disease BEFREE Our study shows that treatment of NPC1<sup>I1061T</sup> fibroblasts with Vorinostat not only enhances pathways promoting the folding, stabilization and trafficking of NPC1 (I1061T) mutant to the LE/Ly, but alters the expression of lysosomal proteins, specifically the lysosomal acid lipase (LIPA) involved in the LIPA->NPC2->NPC1 based flow of cholesterol from the LE/Ly lumen to the LE/Ly membrane. 28860124 2017
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
0.020 Biomarker disease BEFREE Niemann-Pick disease type C1 (NPC1) and type C2 (NPC2) display the same pattern of neurovisceral storage due to deficiencies within lysosomes. 18668002 2008