Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 257641
Gene Symbol: NPCA1
NPCA1
0.010 GeneticVariation disease BEFREE Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular cholesterol trafficking. 30066180 2018