Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
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
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease. 10686180 2000
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
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
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease. 10790207 2000
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319. 11472373 2001
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Copper transportion of WD protein in hepatocytes from Wilson disease patients in vitro. 11854914 2001
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease. 11405812 2001
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
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
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Nuclear proteins that bind to metal response element a (MREa) in the Wilson disease gene promoter are Ku autoantigens and the Ku-80 subunit is necessary for basal transcription of the WD gene. 11985593 2002
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Reduction of copper and metallothionein in toxic milk mice by tetrathiomolybdate, but not deferiprone. 11803042 2002
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
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
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Mutation analysis of copper-transporting P-type adenosine triphosphatase (ATP7B) in human solid carcinomas. 12820478 2003
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Gene expression in the liver of Long-Evans cinnamon rats during the development of hepatitis. 14574444 2003
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
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
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
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
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human A comparison of the mutation spectra of Menkes disease and Wilson disease. 14579150 2004
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
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
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Molecular modelling of the nucleotide-binding domain of Wilson's disease protein: location of the ATP-binding site, domain dynamics and potential effects of the major disease mutations. 15147237 2004
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. 16133174 2005
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
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
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Wilson's disease: an update. 16932613 2006
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Profound midbrain atrophy in patients with Wilson's disease and neurological symptoms? 16607473 2006
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Mitochondrial involvement in genetically determined transition metal toxicity II. Copper toxicity. 16824500 2006
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers. 17634212 2007
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
0.300 Biomarker disease CTD_human Wilson's disease. 17276780 2007