ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Disease: Adrenal cortical hypofunction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		0.010 GeneticVariation disease BEFREE ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson's Disease with Adrenocortical Insufficiency. 29181760 2018