ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.410 Biomarker disease BEFREE Experimental studies in mutant mice in which the copper-transporting ATPase gene (Atp7b) is disrupted revealed a drastic, time-dependent accumulation of hepatic copper that is accompanied by formation of regenerative nodes resembling cirrhosis. 25704483 2015
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.410 Biomarker disease CTD_human Wilson disease (WD) is caused by accumulation of excess copper (Cu) due to a mutation in the gene encoding the liver Cu transporter ATP7B, and is characterized by acute liver failure or cirrhosis and neuronal cell death. 25134866 2014
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.410 CausalMutation disease CLINVAR