ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Disease: Extrapyramidal sign ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.010 Biomarker phenotype BEFREE Decreased biliary copper excretion and reduced incorporation of copper into apoceruloplasmin caused by defunctionalization of ATP7B protein lead to accumulation of copper in many tissues and organs, including liver, brain, and cornea, finally resulting in liver disease and extrapyramidal symptoms. 26112727 2015