Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
0.120 GeneticVariation disease BEFREE To investigate the presence of NPC1 and NPC2 mutations in adults affected by neurodegenerative dementia plus. 27792009 2017
Entrez Id: 10577
Gene Symbol: NPC2
NPC2
0.120 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: 10577
Gene Symbol: NPC2
NPC2
0.120 Biomarker disease HPO