Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN The results show (i) the vast majority of mutations lead to the amino-acid distribution probability increase in mutant ATP7As and decrease in ATP7Bs, and (ii) the probability that a mutation causes Menkes/Wilson disease is about nine tenth. 18688737

2008

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN New mutations in the Wilson disease gene, ATP7B: implications for molecular testing. 18373411

2008

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations. 18483695

2008

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: a novel ATP7B mutation in an adult patient. 18809983

2008

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 Biomarker LHGDN Stability and ATP binding of the nucleotide-binding domain of the Wilson disease protein: effect of the common H1069Q mutation. 18692069

2008

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN We noted concordance between ATP7B gene mutation and Wilson's disease phenotype amongst members within each family. 18698682

2008

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 Biomarker LHGDN Cu(I) binding and transfer by the N terminus of the Wilson disease protein. 17229731

2007

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN The present study was intended to estimate the frequencies of the most common mutations (R778L, R778W, R778G, I1102T and H1069Q) of ATP7B in Indian Wilson disease (WD) population and to explore the correlation between genotype/phenotype and copper ATPase activity. 17160357

2007

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN This report describes the database we have developed for reporting of mutations in ATP7B, the gene defective in WND. 17680703

2007

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN Mutations of the ATP7B gene were sought by means of direct sequencing in 50 Eastern Chinese WD patients of Han ethnic origin. 17876883

2007

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 Biomarker LHGDN Glutathione-S-transferase pull-down experiments, co-immunoprecipitations, immunofluorescence microscopy, site-directed mutagenesis, and biosynthetic labeling experiments were performed to characterize the interaction between COMMD1 and ATP7B and the effects of WD causing mutations. 17919502

2007

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN [Wilson disease: clinical and biological aspects]. 16230279

2006

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN A new mutation of Wilson's disease P-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia. 16416207

2006

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN The phenotypic expression of WD was compared between patients with different types of mutations in ATP7B, detected by direct sequencing of exons 1-21 of the gene. 16283883

2005

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry. 16088907

2005

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 AlteredExpression LHGDN These results indicated that the human ATP7B product compensated for the deficiency of the endogenous rattus protein and did function in intrahepatic copper transport by secreting copper into the plasma via incorporation into ceruloplasmin and by the excretion of copper into the bile, and that ATP7B is critical to hepatic dysfunctions in WD. 15511628

2004

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F. 15205462

2004

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN Most ATP7B proteins harboring missense mutations were distributed similarly to wild-type ATP7B. 12557139

2003

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 Biomarker LHGDN We have sequenced the 5' UTR and promoter region of ATP7B in 37 unrelated WND patients in whom partial sequencing of the coding region and intron/exon boundaries of the gene had failed to identify one or both disease-causing mutations. 14616767

2003

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN The results produced in this paper indicate that the best strategy for mutation detection in Yugoslavian patients with WD is an SSCP analysis of exons 14, 8, 5, and 13, where most of the defects (73.1%) lie, followed by mutation analysis of the remaining exons in ATP7B in patients in whom the mutation was not detected by the finitial screening. 12885331

2003

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 AlteredExpression LHGDN Functional properties of the human copper-transporting ATPase ATP7B (the Wilson's disease protein) and regulation by metallochaperone Atox1. 12763797

2003

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN Defects in a similar gene, the copper transporting ATPase ATP7B, result in Wilson disease. 12539960

2002

Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease: Hepatolenticular Degeneration
Hepatolenticular Degeneration
1.000 GeneticVariation LHGDN Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002