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 The plant decapeptide OSIP108 prevents copper-induced toxicity in various models for Wilson disease. 25134866 2014
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 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 The effect of zinc and D-penicillamine in a stable human hepatoma ATP7B knockout cell line. 24892424 2014
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 Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations. 23333878 2013
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease
0.300 Biomarker disease CTD_human Wilson's disease: changes in methionine metabolism and inflammation affect global DNA methylation in early liver disease. 22945834 2013
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease
0.300 Biomarker disease CTD_human Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with Wilson's disease in Serbia. 23789284 2013
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease
0.300 Biomarker disease CTD_human Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335 2013
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease
0.300 Biomarker disease CTD_human Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease. 23843956 2013
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease
0.300 Biomarker disease CTD_human Selective divalent copper chelation for the treatment of diabetes mellitus. 22455587 2012
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease
0.300 Biomarker disease CTD_human Urinary copper elevation in a mouse model of Wilson's disease is a regulated process to specifically decrease the hepatic copper load. 22802922 2012
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 Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis. 22677543 2012
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 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 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 Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease. 21364284 2011
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 Wilson disease at a single cell level: intracellular copper trafficking activates compartment-specific responses in hepatocytes. 20647314 2010
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease
0.300 Biomarker disease CTD_human Regulation of heme synthesis and proteasomal activity by copper: possible implications for Wilson's disease. 19888908 2009
CUI: C1527352
Disease: Hepatic Form of Wilson Disease
Hepatic Form of Wilson Disease
0.300 Biomarker disease CTD_human Role of copper transporters in copper homeostasis. 18779302 2008
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 Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers. 17634212 2007