Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction
0.300 Biomarker phenotype CTD_human Niemann-Pick C disease (NPC) is a vesicular trafficking disorder primarily caused by mutations in the Npc1 gene and characterized by liver dysfunction and neuropathology. 24901380 2014