Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.110 GeneticVariation disease BEFREE Pathogenic variants of the NPC1 or NPC2 genes yield highly variable phenotypes with a time course that ranges from fetal onset (i.e., hydrops fetalis) to progressive dementia in adults. 27549128 2016
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
0.110 Biomarker disease HPO