Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
0.010 GeneticVariation disease BEFREE This is the first study covering Turkish Wilson disease patients and control groups for mutation screening in all the coding regions of ATP7B gene by DNA sequencing method and adding five new mutations and one polymorphism into the HUGO Wilson disease mutation database. 23333878 2013