rs80358259, NPC1

N. diseases: 9
Disease: Maturation defect ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Maturation defect
CUI: C0334070
Disease: Maturation defect
0.010 GeneticVariation BEFREE Here, we show that several oxysterols and their derivatives act as pharmacological chaperones; binding of these compounds to I1061T NPC1 corrects the localization/maturation defect of the mutant protein. 23521797 2013