Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs541208827
rs541208827
ATP7B
T 0.800 GeneticVariation CLINVAR Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease. 27982432

2017
dbSNP: rs541208827
rs541208827
ATP7B
T 0.800 GeneticVariation CLINVAR A special case of recurrent gross hematuria: Answers. 26650869

2017
dbSNP: rs541208827
rs541208827
ATP7B
T 0.800 GeneticVariation CLINVAR Clinical features and outcome in patients with osseomuscular type of Wilson's disease. 28212618

2017
dbSNP: rs541208827
rs541208827
ATP7B
T 0.800 GeneticVariation CLINVAR Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease. 26483271

2016
dbSNP: rs541208827
rs541208827
ATP7B
T 0.800 GeneticVariation CLINVAR Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. 27022412

2016
dbSNP: rs541208827
rs541208827
ATP7B
T 0.800 GeneticVariation CLINVAR Mutational analysis of ATP7B in Chinese Wilson disease patients. 27398169

2016
dbSNP: rs541208827
rs541208827
ATP7B
0.800 GeneticVariation UNIPROT Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. 25982861

2015
dbSNP: rs541208827
rs541208827
ATP7B
T 0.800 GeneticVariation CLINVAR Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration. 26782526

2015
dbSNP: rs541208827
rs541208827
ATP7B
0.800 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712

2014
dbSNP: rs541208827
rs541208827
ATP7B
T 0.800 GeneticVariation CLINVAR Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study. 24475083

2014
dbSNP: rs541208827
rs541208827
ATP7B
0.800 GeneticVariation UNIPROT Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B. 24706876

2014
dbSNP: rs541208827
rs541208827
ATP7B
T 0.800 GeneticVariation CLINVAR Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation. 24094725

2014
dbSNP: rs541208827
rs541208827
ATP7B
0.800 GeneticVariation UNIPROT A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease. 23159873

2013
dbSNP: rs541208827
rs541208827
ATP7B
0.800 GeneticVariation UNIPROT Mutational analysis of ATP7B in north Chinese patients with Wilson disease. 23235335

2013
dbSNP: rs541208827
rs541208827
ATP7B
0.800 GeneticVariation UNIPROT A genetic study of Wilson's disease in the United Kingdom. 23518715

2013
dbSNP: rs541208827
rs541208827
ATP7B
0.800 GeneticVariation UNIPROT Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study. 22763723

2012
dbSNP: rs541208827
rs541208827
ATP7B
T 0.800 GeneticVariation CLINVAR A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism. 22692182

2012
dbSNP: rs541208827
rs541208827
ATP7B
0.800 GeneticVariation UNIPROT New novel mutation of the ATP7B gene in a family with Wilson disease. 22075048

2012
dbSNP: rs541208827
rs541208827
ATP7B
T 0.800 GeneticVariation CLINVAR Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort. 21645214

2011
dbSNP: rs541208827
rs541208827
ATP7B
T 0.800 GeneticVariation CLINVAR Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations. 21219664

2011
dbSNP: rs541208827
rs541208827
ATP7B
T 0.800 GeneticVariation CLINVAR Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease. 17587212

2007
dbSNP: rs541208827
rs541208827
ATP7B
0.800 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs541208827
rs541208827
ATP7B
0.800 GeneticVariation UNIPROT Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
dbSNP: rs541208827
rs541208827
ATP7B
0.800 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs541208827
rs541208827
ATP7B
T 0.800 GeneticVariation CLINVAR Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. 14966923

2004