ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Disease: Hepatic Form of Wilson Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human A comparison of the mutation spectra of Menkes disease and Wilson disease. 14579150 2004
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human A systems approach implicates nuclear receptor targeting in the Atp7b(-/-) mouse model of Wilson's disease. 22565294 2012
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human ATP7B activity is stimulated by PKCɛ in porcine liver. 25003971 2014
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein. 21406592 2011
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B. 21242307 2011
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B. 22130675 2012
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Copper transport and its defect in Wilson disease: characterization of the copper-binding domain of Wilson disease ATPase. 10830865 2000
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Copper transportion of WD protein in hepatocytes from Wilson disease patients in vitro. 11854914 2001
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Copper- and iron-rich matrices in hepatocellular lipofuscin particles of a young male patient: diagnostic ultrastructures for Wilson disease. 17182432 2007
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion. 10982773 2000
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Copper-regulated trafficking of the Menkes disease copper ATPase is associated with formation of a phosphorylated catalytic intermediate. 12228238 2002
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Dietary polyunsaturated fatty acids suppress acute hepatitis, alter gene expression and prolong survival of female Long-Evans Cinnamon rats, a model of Wilson disease. 15135151 2004
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502 2007
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase. 11157799 2001
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Elevated copper remodels hepatic RNA processing machinery in the mouse model of Wilson's disease. 21146535 2011
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Ferrous and ferric iron accumulates in the brain of aged Long-Evans Cinnamon rats, an animal model of Wilson's disease. 15911138 2005
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Functional significance of the copper transporter ATP7 in peptidergic neurons and endocrine cells in Drosophila melanogaster. 22981378 2012
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Gene expression in the liver of Long-Evans cinnamon rats during the development of hepatitis. 14574444 2003
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation. 24094725 2014
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease. 18371106 2008
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319. 11472373 2001
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease. 12544487 2003
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Intestinal expression of metal transporters in Wilson's disease. 23963605 2013
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Intracellular trafficking of the human Wilson protein: the role of the six N-terminal metal-binding sites. 14998371 2004
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease 		0.300 Biomarker disease CTD_human Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease. 21364284 2011