Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268070
Disease: Hypocupremia
Hypocupremia
0.010 GeneticVariation disease BEFREE A Sephardic-Jewish patient, carrying a new AP1S1 homozygous mutation, showed severe perturbations of copper metabolism with hypocupremia, hypoceruloplasminemia and liver copper accumulation, along with intrahepatic cholestasis. 23423674 2013