Disease: Tauopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.020 Biomarker group BEFREE Among these tauopathies is Niemann-Pick type C disease (NPC), a lysosomal storage disorder characterized by progressive neurodegeneration and premature death, most often caused by an inherited deficiency in the intracellular lipid trafficking protein NPC1. 19074461 2009
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.020 GeneticVariation group BEFREE In NPC1, early-onset tauopathy is a constant feature. 15099022 2004