Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497327
Disease: Dementia
Dementia
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
CUI: C0497327
Disease: Dementia
Dementia
0.110 Biomarker disease HPO